UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7669589_7676614del | CA2499224945 | TP53 | c.-19_*21del c.-21-1377_*21del c.-19_*310del c.-19_*222del c.-253_*21del c.-136_*222del c.-136_*21del c.-136_*310del c.-136_983+1021del | ClinVar |
| 17 | g.7669609_7676594del | CA2581463470 | TP53 | c.1_1182del c.-21-1358_786del c.1_903del c.1_1161del c.1_994-3365del c.1_782+4572del c.1_*289del c.1_*201del c.-234_1065del c.-117_*201del c.1_1149del c.-117_1065del c.-117_*289del c.-117_983+1000del | |
| 17 | g.7673635_7673845del | CA645587395 | TP53 | c.783-8_920-27del c.387-8_524-27del c.504-8_641-27del c.762-8_899-27del c.782+336_782+546del (n.782+336_782+546del) c.666-8_803-27del c.306-8_443-27del c.750-8_887-27del | COSMIC |
| 17 | g.7673705_7673827del | CA645587414 | TP53 | c.794_916del (p.Leu265_Lys305del) c.398_520del (p.Leu133_Lys173del) c.515_637del (p.Leu172_Lys212del) c.773_895del (p.Leu258_Lys298del) c.782+355_782+477del (n.782+355_782+477del) c.677_799del (p.Leu226_Lys266del) c.317_439del (p.Leu106_Lys146del) c.761_883del (p.Leu254_Lys294del) | COSMIC |
| 17 | g.7673709_7673743del | CA645587417 | TP53 | c.877_911del (p.Gly293Ter) c.481_515del (p.Gly161Ter) c.598_632del (p.Gly200Ter) c.856_890del (p.Gly286Ter) c.782+438_782+472del (n.782+438_782+472del) c.760_794del (p.Gly254Ter) c.400_434del (p.Gly134Ter) c.844_878del (p.Gly282Ter) | COSMIC |
| 17 | g.7673732_7673750dup | CA2499224957 | TP53 | c.872_890dup (p.His297GlnfsTer15) c.476_494dup (p.His165GlnfsTer15) c.593_611dup (p.His204GlnfsTer15) c.851_869dup (p.His290GlnfsTer15) c.782+433_782+451dup (n.782+433_782+451dup) c.755_773dup (p.His258GlnfsTer15) c.395_413dup (p.His138GlnfsTer15) c.839_857dup (p.His286GlnfsTer15) | ClinVar dbSNP |
| 17 | g.7673732_7673750del | CA645588303 | TP53 | c.872_890del (p.Lys291ThrfsTer?) c.476_494del (p.Lys159ThrfsTer?) c.593_611del (p.Lys198ThrfsTer?) c.851_869del (p.Lys284ThrfsTer?) c.782+433_782+451del (n.782+433_782+451del) c.755_773del (p.Lys252ThrfsTer?) c.395_413del (p.Lys132ThrfsTer?) c.839_857del (p.Lys280ThrfsTer?) | COSMIC |
| 17 | g.7673730_7673775delinsTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCC | CA2245948714 | TP53 | c.845_890delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (p.Arg282=) c.449_494delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (p.Arg150=) c.566_611delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (p.Arg189=) c.824_869delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (p.Arg275=) c.782+406_782+451delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (n.782+406_782+451delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA) c.728_773delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (p.Arg243=) c.368_413delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (p.Arg123=) c.812_857delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (p.Arg271=) | |
| 17 | g.7673734_7673778del | CA913190582 | TP53 | c.845_889del (p.Arg282_His296del) c.449_493del (p.Arg150_His164del) c.566_610del (p.Arg189_His203del) c.824_868del (p.Arg275_His289del) c.782+406_782+450del (n.782+406_782+450del) c.728_772del (p.Arg243_His257del) c.368_412del (p.Arg123_His137del) c.812_856del (p.Arg271_His285del) | ClinVar dbSNP |
| 17 | g.7673732_7673747del | CA645588307 | TP53 | c.873_888del (p.Lys291AsnfsTer?) c.477_492del (p.Lys159AsnfsTer?) c.594_609del (p.Lys198AsnfsTer?) c.852_867del (p.Lys284AsnfsTer?) c.782+434_782+449del (n.782+434_782+449del) c.756_771del (p.Lys252AsnfsTer?) c.396_411del (p.Lys132AsnfsTer?) c.840_855del (p.Lys280AsnfsTer?) | COSMIC |
| 17 | g.7673738_7673753del | CA645588309 | TP53 | c.869_884del (p.Arg290LeufsTer?) c.473_488del (p.Arg158LeufsTer?) c.590_605del (p.Arg197LeufsTer?) c.848_863del (p.Arg283LeufsTer?) c.782+430_782+445del (n.782+430_782+445del) c.752_767del (p.Arg251LeufsTer?) c.392_407del (p.Arg131LeufsTer?) c.836_851del (p.Arg279LeufsTer?) | COSMIC |
| 17 | g.7673739_7673751dup | CA2635874653 | TP53 | c.871_883dup (p.Pro295GlnfsTer15) c.475_487dup (p.Pro163GlnfsTer15) c.592_604dup (p.Pro202GlnfsTer15) c.850_862dup (p.Pro288GlnfsTer15) c.782+432_782+444dup (n.782+432_782+444dup) c.754_766dup (p.Pro256GlnfsTer15) c.394_406dup (p.Pro136GlnfsTer15) c.838_850dup (p.Pro284GlnfsTer15) | ClinVar gnomAD v4 |
| 17 | g.7673743dup | CA645588312 | TP53 | c.880dup (p.Glu294GlyfsTer12) c.484dup (p.Glu162GlyfsTer12) c.601dup (p.Glu201GlyfsTer12) c.859dup (p.Glu287GlyfsTer12) c.782+441dup (n.782+441dup) c.763dup (p.Glu255GlyfsTer12) c.403dup (p.Glu135GlyfsTer12) c.847dup (p.Glu283GlyfsTer12) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673743del | CA497715614 | TP53 | c.880del (p.Glu294SerfsTer?) c.484del (p.Glu162SerfsTer?) c.601del (p.Glu201SerfsTer?) c.859del (p.Glu287SerfsTer?) c.782+441del (n.782+441del) c.763del (p.Glu255SerfsTer?) c.403del (p.Glu135SerfsTer?) c.847del (p.Glu283SerfsTer?) | ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673742_7673743del | CA645588313 | TP53 | c.879_880del (p.Glu294AlafsTer11) c.483_484del (p.Glu162AlafsTer11) c.600_601del (p.Glu201AlafsTer11) c.858_859del (p.Glu287AlafsTer11) c.782+440_782+441del (n.782+440_782+441del) c.762_763del (p.Glu255AlafsTer11) c.402_403del (p.Glu135AlafsTer11) c.846_847del (p.Glu283AlafsTer11) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673742_7673752del | CA645588315 | TP53 | c.868_878del (p.Arg290GlyfsTer12) c.472_482del (p.Arg158GlyfsTer12) c.589_599del (p.Arg197GlyfsTer12) c.847_857del (p.Arg283GlyfsTer12) c.782+429_782+439del (n.782+429_782+439del) c.751_761del (p.Arg251GlyfsTer12) c.391_401del (p.Arg131GlyfsTer12) c.835_845del (p.Arg279GlyfsTer12) | COSMIC |
| 17 | g.7673743_7673772del | CA645588314 | TP53 | c.849_878del (p.Thr284_Gly293del) c.453_482del (p.Thr152_Gly161del) c.570_599del (p.Thr191_Gly200del) c.828_857del (p.Thr277_Gly286del) c.782+410_782+439del (n.782+410_782+439del) c.732_761del (p.Thr245_Gly254del) c.372_401del (p.Thr125_Gly134del) c.816_845del (p.Thr273_Gly282del) | COSMIC |
| 17 | g.7673743C>A | CA000470 | TP53 | c.877G>T (p.Gly293Trp) c.481G>T (p.Gly161Trp) c.598G>T (p.Gly200Trp) c.856G>T (p.Gly286Trp) c.782+438G>T (n.782+438G>T) c.760G>T (p.Gly254Trp) c.400G>T (p.Gly134Trp) c.844G>T (p.Gly282Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7673743C= | CA2245948798 | TP53 | c.877G= (p.Gly293=) c.481G= (p.Gly161=) c.598G= (p.Gly200=) c.856G= (p.Gly286=) c.782+438G= (n.782+438G=) c.760G= (p.Gly254=) c.400G= (p.Gly134=) c.844G= (p.Gly282=) | |
| 17 | g.7673743C>G | CA397836528 | TP53 | c.877G>C (p.Gly293Arg) c.481G>C (p.Gly161Arg) c.598G>C (p.Gly200Arg) c.856G>C (p.Gly286Arg) c.782+438G>C (n.782+438G>C) c.760G>C (p.Gly254Arg) c.400G>C (p.Gly134Arg) c.844G>C (p.Gly282Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7673743C>T | CA001422 | TP53 | c.877G>A (p.Gly293Arg) c.481G>A (p.Gly161Arg) c.598G>A (p.Gly200Arg) c.856G>A (p.Gly286Arg) c.782+438G>A (n.782+438G>A) c.760G>A (p.Gly254Arg) c.400G>A (p.Gly134Arg) c.844G>A (p.Gly282Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.7673743_7673744del | CA645588316 | TP53 | c.876_877del (p.Glu294AlafsTer11) c.480_481del (p.Glu162AlafsTer11) c.597_598del (p.Glu201AlafsTer11) c.855_856del (p.Glu287AlafsTer11) c.782+437_782+438del (n.782+437_782+438del) c.759_760del (p.Glu255AlafsTer11) c.399_400del (p.Glu135AlafsTer11) c.843_844del (p.Glu283AlafsTer11) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673746_7673749del | CA645588317 | TP53 | c.874_877del (p.Lys292GlyfsTer?) c.478_481del (p.Lys160GlyfsTer?) c.595_598del (p.Lys199GlyfsTer?) c.853_856del (p.Lys285GlyfsTer?) c.782+435_782+438del (n.782+435_782+438del) c.757_760del (p.Lys253GlyfsTer?) c.397_400del (p.Lys133GlyfsTer?) c.841_844del (p.Lys281GlyfsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673744_7673772dup | CA2739265591 | TP53 | c.849_877dup (p.Gly293AlafsTer?) c.453_481dup (p.Gly161AlafsTer?) c.570_598dup (p.Gly200AlafsTer?) c.828_856dup (p.Gly286AlafsTer?) c.782+410_782+438dup (n.782+410_782+438dup) c.732_760dup (p.Gly254AlafsTer?) c.372_400dup (p.Gly134AlafsTer?) c.816_844dup (p.Gly282AlafsTer?) | ClinVar |
| 17 | g.7673744_7673806del | CA645588318 | TP53 | c.815_877del (p.Val272_Lys292del) c.419_481del (p.Val140_Lys160del) c.536_598del (p.Val179_Lys199del) c.794_856del (p.Val265_Lys285del) c.782+376_782+438del (n.782+376_782+438del) c.698_760del (p.Val233_Lys253del) c.338_400del (p.Val113_Lys133del) c.782_844del (p.Val261_Lys281del) | COSMIC |
| 17 | g.7673744T>A | CA397836532 | TP53 | c.876A>T (p.Lys292Asn) c.480A>T (p.Lys160Asn) c.597A>T (p.Lys199Asn) c.855A>T (p.Lys285Asn) c.782+437A>T (n.782+437A>T) c.759A>T (p.Lys253Asn) c.399A>T (p.Lys133Asn) c.843A>T (p.Lys281Asn) | ClinVar dbSNP COSMIC |
| 17 | g.7673744T>C | CA497715640 | TP53 | c.876A>G (p.Lys292=) c.480A>G (p.Lys160=) c.597A>G (p.Lys199=) c.855A>G (p.Lys285=) c.782+437A>G (n.782+437A>G) c.759A>G (p.Lys253=) c.399A>G (p.Lys133=) c.843A>G (p.Lys281=) | ClinVar dbSNP COSMIC |
| 17 | g.7673744T>G | CA397836533 | TP53 | c.876A>C (p.Lys292Asn) c.480A>C (p.Lys160Asn) c.597A>C (p.Lys199Asn) c.855A>C (p.Lys285Asn) c.782+437A>C (n.782+437A>C) c.759A>C (p.Lys253Asn) c.399A>C (p.Lys133Asn) c.843A>C (p.Lys281Asn) | ClinVar COSMIC |
| 17 | g.7673744T= | CA2245948805 | TP53 | c.876A= (p.Lys292=) c.480A= (p.Lys160=) c.597A= (p.Lys199=) c.855A= (p.Lys285=) c.782+437A= (n.782+437A=) c.759A= (p.Lys253=) c.399A= (p.Lys133=) c.843A= (p.Lys281=) | |
| 17 | g.7673746del | CA497715642 | TP53 | c.876del (p.Glu294SerfsTer?) c.480del (p.Glu162SerfsTer?) c.597del (p.Glu201SerfsTer?) c.855del (p.Glu287SerfsTer?) c.782+437del (n.782+437del) c.759del (p.Glu255SerfsTer?) c.399del (p.Glu135SerfsTer?) c.843del (p.Glu283SerfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673745_7673746del | CA645588322 | TP53 | c.875_876del (p.Lys292ArgfsTer13) c.479_480del (p.Lys160ArgfsTer13) c.596_597del (p.Lys199ArgfsTer13) c.854_855del (p.Lys285ArgfsTer13) c.782+436_782+437del (n.782+436_782+437del) c.758_759del (p.Lys253ArgfsTer13) c.398_399del (p.Lys133ArgfsTer13) c.842_843del (p.Lys281ArgfsTer13) | COSMIC |
| 17 | g.7673745T>A | CA000469 | TP53 | c.875A>T (p.Lys292Ile) c.479A>T (p.Lys160Ile) c.596A>T (p.Lys199Ile) c.854A>T (p.Lys285Ile) c.782+436A>T (n.782+436A>T) c.758A>T (p.Lys253Ile) c.398A>T (p.Lys133Ile) c.842A>T (p.Lys281Ile) | ClinVar dbSNP |
| 17 | g.7673745T>C | CA16615993 | TP53 | c.875A>G (p.Lys292Arg) c.479A>G (p.Lys160Arg) c.596A>G (p.Lys199Arg) c.854A>G (p.Lys285Arg) c.782+436A>G (n.782+436A>G) c.758A>G (p.Lys253Arg) c.398A>G (p.Lys133Arg) c.842A>G (p.Lys281Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7673745T>G | CA397836542 | TP53 | c.875A>C (p.Lys292Thr) c.479A>C (p.Lys160Thr) c.596A>C (p.Lys199Thr) c.854A>C (p.Lys285Thr) c.782+436A>C (n.782+436A>C) c.758A>C (p.Lys253Thr) c.398A>C (p.Lys133Thr) c.842A>C (p.Lys281Thr) | ClinVar dbSNP COSMIC |
| 17 | g.7673745T= | CA2245948812 | TP53 | c.875A= (p.Lys292=) c.479A= (p.Lys160=) c.596A= (p.Lys199=) c.854A= (p.Lys285=) c.782+436A= (n.782+436A=) c.758A= (p.Lys253=) c.398A= (p.Lys133=) c.842A= (p.Lys281=) | |
| 17 | g.7673746_7673768del | CA645588323 | TP53 | c.853_875del (p.Glu285ArgfsTer13) c.457_479del (p.Glu153ArgfsTer13) c.574_596del (p.Glu192ArgfsTer13) c.832_854del (p.Glu278ArgfsTer13) c.782+414_782+436del (n.782+414_782+436del) c.736_758del (p.Glu246ArgfsTer13) c.376_398del (p.Glu126ArgfsTer13) c.820_842del (p.Glu274ArgfsTer13) | COSMIC |
| 17 | g.7673746T>A | CA397836544 | TP53 | c.874A>T (p.Lys292Ter) c.478A>T (p.Lys160Ter) c.595A>T (p.Lys199Ter) c.853A>T (p.Lys285Ter) c.782+435A>T (n.782+435A>T) c.757A>T (p.Lys253Ter) c.397A>T (p.Lys133Ter) c.841A>T (p.Lys281Ter) | dbSNP COSMIC COSMIC |
| 17 | g.7673746T>C | CA397836557 | TP53 | c.874A>G (p.Lys292Glu) c.478A>G (p.Lys160Glu) c.595A>G (p.Lys199Glu) c.853A>G (p.Lys285Glu) c.782+435A>G (n.782+435A>G) c.757A>G (p.Lys253Glu) c.397A>G (p.Lys133Glu) c.841A>G (p.Lys281Glu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7673746T>G | CA397836560 | TP53 | c.874A>C (p.Lys292Gln) c.478A>C (p.Lys160Gln) c.595A>C (p.Lys199Gln) c.853A>C (p.Lys285Gln) c.782+435A>C (n.782+435A>C) c.757A>C (p.Lys253Gln) c.397A>C (p.Lys133Gln) c.841A>C (p.Lys281Gln) | |
| 17 | g.7673746T= | CA2245948821 | TP53 | c.874A= (p.Lys292=) c.478A= (p.Lys160=) c.595A= (p.Lys199=) c.853A= (p.Lys285=) c.782+435A= (n.782+435A=) c.757A= (p.Lys253=) c.397A= (p.Lys133=) c.841A= (p.Lys281=) | |
| 17 | g.7673746_7673750delinsTCTTG | CA2245948823 | TP53 | c.870_874delinsCAAGA (p.Arg290=) c.474_478delinsCAAGA (p.Arg158=) c.591_595delinsCAAGA (p.Arg197=) c.849_853delinsCAAGA (p.Arg283=) c.782+431_782+435delinsCAAGA (n.782+431_782+435delinsCAAGA) c.753_757delinsCAAGA (p.Arg251=) c.393_397delinsCAAGA (p.Arg131=) c.837_841delinsCAAGA (p.Arg279=) | |
| 17 | g.7673746_7673753del | CA645588325 | TP53 | c.867_874del (p.Lys291GlyfsTer12) c.471_478del (p.Lys159GlyfsTer12) c.588_595del (p.Lys198GlyfsTer12) c.846_853del (p.Lys284GlyfsTer12) c.782+428_782+435del (n.782+428_782+435del) c.750_757del (p.Lys252GlyfsTer12) c.390_397del (p.Lys132GlyfsTer12) c.834_841del (p.Lys280GlyfsTer12) | COSMIC |
| 17 | g.7673747_7673762del | CA645588326 | TP53 | c.859_874del (p.Glu287LysfsTer?) c.463_478del (p.Glu155LysfsTer?) c.580_595del (p.Glu194LysfsTer?) c.838_853del (p.Glu280LysfsTer?) c.782+420_782+435del (n.782+420_782+435del) c.742_757del (p.Glu248LysfsTer?) c.382_397del (p.Glu128LysfsTer?) c.826_841del (p.Glu276LysfsTer?) | COSMIC |
| 17 | g.7673750_7673763del | CA645588324 | TP53 | c.861_874del (p.Asn288ArgfsTer13) c.465_478del (p.Asn156ArgfsTer13) c.582_595del (p.Asn195ArgfsTer13) c.840_853del (p.Asn281ArgfsTer13) c.782+422_782+435del (n.782+422_782+435del) c.744_757del (p.Asn249ArgfsTer13) c.384_397del (p.Asn129ArgfsTer13) c.828_841del (p.Asn277ArgfsTer13) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673746_7673747insAA | CA645588328 | TP53 | c.873_874insTT (p.Lys292LeufsTer?) c.477_478insTT (p.Lys160LeufsTer?) c.594_595insTT (p.Lys199LeufsTer?) c.852_853insTT (p.Lys285LeufsTer?) c.782+434_782+435insTT (n.782+434_782+435insTT) c.756_757insTT (p.Lys253LeufsTer?) c.396_397insTT (p.Lys133LeufsTer?) c.840_841insTT (p.Lys281LeufsTer?) | COSMIC |
| 17 | g.7673747del | CA497715672 | TP53 | c.873del (p.Glu294SerfsTer?) c.477del (p.Glu162SerfsTer?) c.594del (p.Glu201SerfsTer?) c.852del (p.Glu287SerfsTer?) c.782+434del (n.782+434del) c.756del (p.Glu255SerfsTer?) c.396del (p.Glu135SerfsTer?) c.840del (p.Glu283SerfsTer?) | COSMIC |
| 17 | g.7673747C>A | CA397836562 | TP53 | c.873G>T (p.Lys291Asn) c.477G>T (p.Lys159Asn) c.594G>T (p.Lys198Asn) c.852G>T (p.Lys284Asn) c.782+434G>T (n.782+434G>T) c.756G>T (p.Lys252Asn) c.396G>T (p.Lys132Asn) c.840G>T (p.Lys280Asn) | dbSNP |
| 17 | g.7673747C= | CA2245948831 | TP53 | c.873G= (p.Lys291=) c.477G= (p.Lys159=) c.594G= (p.Lys198=) c.852G= (p.Lys284=) c.782+434G= (n.782+434G=) c.756G= (p.Lys252=) c.396G= (p.Lys132=) c.840G= (p.Lys280=) | |
| 17 | g.7673747C>G | CA287486593 | TP53 | c.873G>C (p.Lys291Asn) c.477G>C (p.Lys159Asn) c.594G>C (p.Lys198Asn) c.852G>C (p.Lys284Asn) c.782+434G>C (n.782+434G>C) c.756G>C (p.Lys252Asn) c.396G>C (p.Lys132Asn) c.840G>C (p.Lys280Asn) | ClinVar dbSNP COSMIC |
| 17 | g.7673747C>T | CA497715668 | TP53 | c.873G>A (p.Lys291=) c.477G>A (p.Lys159=) c.594G>A (p.Lys198=) c.852G>A (p.Lys284=) c.782+434G>A (n.782+434G>A) c.756G>A (p.Lys252=) c.396G>A (p.Lys132=) c.840G>A (p.Lys280=) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |