Canonical Allele Identifier: CA2260782851
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092350_43092392delinsTTTCATTAATACTGGAGCCCACTTCATTAGTACTGGAACCTAC , CM000679.2:g.43092350_43092392delinsTTTCATTAATACTGGAGCCCACTTCATTAGTACTGGAACCTAC GRCh38
NC_000017.10:g.41244367_41244409delinsTTTCATTAATACTGGAGCCCACTTCATTAGTACTGGAACCTAC , CM000679.1:g.41244367_41244409delinsTTTCATTAATACTGGAGCCCACTTCATTAGTACTGGAACCTAC GRCh37
NC_000017.9:g.38497893_38497935delinsTTTCATTAATACTGGAGCCCACTTCATTAGTACTGGAACCTAC NCBI36
NG_005905.2:g.125592_125634delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA , LRG_292:g.125592_125634delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3203_3245delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA
ENST00000461574.2:c.3139_3181delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000417241.2:p.Val1047=
ENST00000470026.6:c.3139_3181delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000419274.2:p.Val1047=
ENST00000473961.6:c.3013_3055delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000420201.2:p.Val1005=
ENST00000476777.6:c.3136_3178delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000417554.2:p.Val1046=
ENST00000477152.6:c.3061_3103delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000419988.2:p.Val1021=
ENST00000478531.6:c.785-1360_785-1318delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000420412.2:n.785-1360_785-1318delinsGTAGGTTCCAGTACTAAT...
ENST00000489037.2:c.3061_3103delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000420781.2:p.Val1021=
ENST00000493919.6:c.647-1360_647-1318delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000418819.2:n.647-1360_647-1318delinsGTAGGTTCCAGTACTAAT...
ENST00000494123.6:c.3139_3181delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000419103.2:p.Val1047=
ENST00000497488.2:c.2251_2293delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000418986.2:p.Val751=
ENST00000618469.2:c.3139_3181delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000478114.2:p.Val1047=
ENST00000634433.2:c.3016_3058delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000489431.2:p.Val1006=
ENST00000644379.2:c.3139_3181delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000496570.2:p.Val1047=
ENST00000644555.2:c.647-1360_647-1318delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000494614.2:n.647-1360_647-1318delinsGTAGGTTCCAGTACTAAT...
ENST00000652672.2:c.2998_3040delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000498906.2:p.Val1000=
ENST00000484087.6:c.665-1360_665-1318delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000419481.2:n.665-1360_665-1318delinsGTAGGTTCCAGTACTAAT...
ENST00000700182.1:c.707-1360_707-1318delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000514849.1:n.707-1360_707-1318delinsGTAGGTTCCAGTACTAAT...
ENST00000357654.9:c.3139_3181delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA MANE Select ENSP00000350283.3:p.Val1047=
ENST00000471181.7:c.3139_3181delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000418960.2:p.Val1047=
ENST00000352993.7:c.671-1360_671-1318delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000312236.5:n.671-1360_671-1318delinsGTAGGTTCCAGTACTAAT...
ENST00000354071.7:c.3139_3181delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000326002.7:p.Val1047=
ENST00000357654.7:c.3139_3181delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000350283.3:p.Val1047=
ENST00000461221.5:c.*2922_*2964delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000418548.1:n.*2922_*2964delinsGTAGGTTCCAGTACTAATGAAGTG...
ENST00000468300.5:c.788-1360_788-1318delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000417148.1:n.788-1360_788-1318delinsGTAGGTTCCAGTACTAAT...
ENST00000471181.6:c.3139_3181delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000418960.2:p.Val1047=
ENST00000478531.5:c.785-1360_785-1318delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000420412.1:n.785-1360_785-1318delinsGTAGGTTCCAGTACTAAT...
ENST00000484087.5:c.410-1360_410-1318delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000419481.1:n.410-1360_410-1318delinsGTAGGTTCCAGTACTAAT...
ENST00000487825.5:c.413-1360_413-1318delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000418212.1:n.413-1360_413-1318delinsGTAGGTTCCAGTACTAAT...
ENST00000491747.6:c.788-1360_788-1318delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000420705.2:n.788-1360_788-1318delinsGTAGGTTCCAGTACTAAT...
ENST00000493795.5:c.2998_3040delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000418775.1:p.Val1000=
ENST00000493919.5:c.647-1360_647-1318delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000418819.1:n.647-1360_647-1318delinsGTAGGTTCCAGTACTAAT...
ENST00000586385.5:c.5-28441_5-28399delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000465818.1:n.5-28441_5-28399delinsGTAGGTTCCAGTACTAATGA...
ENST00000591534.5:c.-43-17871_-43-17829delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000467329.1:n.-43-17871_-43-17829delinsGTAGGTTCCAGTACTA...
ENST00000591849.5:c.-99+32879_-99+32921delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA ENSP00000465347.1:n.-99+32879_-99+32921delinsGTAGGTTCCAGTACTA...
NM_007294.3:c.3139_3181delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA , LRG_292t1:c.3139_3181delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA NP_009225.1:p.Val1047=
NM_007297.3:c.2998_3040delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA NP_009228.2:p.Val1000=
NM_007298.3:c.788-1360_788-1318delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA NP_009229.2:n.788-1360_788-1318delinsGTAGGTTCCAGTACTAATGAAGTG...
NM_007299.3:c.788-1360_788-1318delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA NP_009230.2:n.788-1360_788-1318delinsGTAGGTTCCAGTACTAATGAAGTG...
NM_007300.3:c.3139_3181delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA NP_009231.2:p.Val1047=
NR_027676.1:n.3275_3317delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA
NM_007294.4:c.3139_3181delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA MANE Select NP_009225.1:p.Val1047=
NM_007297.4:c.2998_3040delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA NP_009228.2:p.Val1000=
NM_007299.4:c.788-1360_788-1318delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA NP_009230.2:n.788-1360_788-1318delinsGTAGGTTCCAGTACTAATGAAGTG...
NM_007300.4:c.3139_3181delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA NP_009231.2:p.Val1047=
NR_027676.2:n.3316_3358delinsGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAA