WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
dbSNP Id:
rs2152506523
COSMIC:
COSM4766050
MyVariant Identifiers:
chr6:g.152419920_152419921delinsAG (hg19)
CIViC:
CA645542628
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152098785_152098786delinsAG , CM000668.2:g.152098785_152098786delinsAG | GRCh38 |
| NC_000006.11:g.152419920_152419921delinsAG , CM000668.1:g.152419920_152419921delinsAG | GRCh37 |
| NC_000006.10:g.152461613_152461614delinsAG | NCBI36 |
| NG_008493.1:g.413290_413291delinsAG | |
| NG_008493.2:g.447095_447096delinsAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206249.8:c.1607_1608delinsAG MANE Select | ENSP00000206249.3:p.Leu536Gln | |
| ENST00000641399.1:n.935_936delinsAG | ||
| ENST00000206249.7:c.1607_1608delinsAG | ENSP00000206249.3:p.Leu536Gln | |
| ENST00000338799.9:c.1607_1608delinsAG | ENSP00000342630.5:p.Leu536Gln | |
| ENST00000406599.5:c.824_825delinsAG | ENSP00000384064.1:p.Leu275Gln | |
| ENST00000427531.6:c.851-26481_851-26480delinsAG | ENSP00000394721.2:n.851-26481_851-26480de... | |
| ENST00000440973.5:c.1607_1608delinsAG | ENSP00000405330.1:p.Leu536Gln | |
| ENST00000443427.5:c.1607_1608delinsAG | ENSP00000387500.1:p.Leu536Gln | |
| ENST00000456483.3:c.*482_*483delinsAG | ENSP00000415934.3:n.*482_*483delinsAG | |
| NM_000125.3:c.1607_1608delinsAG | NP_000116.2:p.Leu536Gln | |
| NM_001122740.1:c.1607_1608delinsAG | NP_001116212.1:p.Leu536Gln | |
| NM_001122741.1:c.1607_1608delinsAG | NP_001116213.1:p.Leu536Gln | |
| NM_001122742.1:c.1607_1608delinsAG | NP_001116214.1:p.Leu536Gln | |
| NM_001291230.1:c.1613_1614delinsAG | NP_001278159.1:p.Leu538Gln | |
| NM_001291241.1:c.1604_1605delinsAG | NP_001278170.1:p.Leu535Gln | |
| XM_006715374.2:c.*22_*23delinsAG | XP_006715437.1:n.*22_*23delinsAG | |
| XM_006715375.2:c.1088_1089delinsAG | XP_006715438.1:p.Leu363Gln | |
| XM_011535543.1:c.1607_1608delinsAG | XP_011533845.1:p.Leu536Gln | |
| XM_011535544.1:c.1607_1608delinsAG | XP_011533846.1:p.Leu536Gln | |
| XM_011535545.1:c.1607_1608delinsAG | XP_011533847.1:p.Leu536Gln | |
| XM_011535546.1:c.1607_1608delinsAG | XP_011533848.1:p.Leu536Gln | |
| XM_011535548.1:c.1088_1089delinsAG | XP_011533850.1:p.Leu363Gln | |
| XM_011535549.1:c.878_879delinsAG | XP_011533851.1:p.Leu293Gln | |
| NM_001328100.1:c.851-26481_851-26480delinsAG | NP_001315029.1:n.851-26481_851-26480delin... | |
| XM_006715374.3:c.*22_*23delinsAG | XP_006715437.1:n.*22_*23delinsAG | |
| XM_006715375.3:c.1088_1089delinsAG | XP_006715438.1:p.Leu363Gln | |
| XM_011535543.2:c.1607_1608delinsAG | XP_011533845.1:p.Leu536Gln | |
| XM_011535544.2:c.1607_1608delinsAG | XP_011533846.1:p.Leu536Gln | |
| XM_011535545.2:c.1607_1608delinsAG | XP_011533847.1:p.Leu536Gln | |
| XM_011535549.2:c.878_879delinsAG | XP_011533851.1:p.Leu293Gln | |
| XM_017010376.1:c.1607_1608delinsAG | XP_016865865.1:p.Leu536Gln | |
| XM_017010377.1:c.1607_1608delinsAG | XP_016865866.1:p.Leu536Gln | |
| XM_017010378.1:c.1607_1608delinsAG | XP_016865867.1:p.Leu536Gln | |
| XM_017010379.1:c.1607_1608delinsAG | XP_016865868.1:p.Leu536Gln | |
| XM_017010380.1:c.1607_1608delinsAG | XP_016865869.1:p.Leu536Gln | |
| XM_017010381.1:c.1607_1608delinsAG | XP_016865870.1:p.Leu536Gln | |
| XM_017010382.2:c.950_951delinsAG | XP_016865871.1:p.Leu317Gln | |
| XM_017010383.1:c.818_819delinsAG | XP_016865872.1:p.Leu273Gln | |
| XR_001743223.2:n.1654_1655delinsAG | ||
| NM_000125.4:c.1607_1608delinsAG MANE Select | NP_000116.2:p.Leu536Gln | |
| NM_001328100.2:c.851-26481_851-26480delinsAG | NP_001315029.1:n.851-26481_851-26480delin... | |
| NM_001122740.2:c.1607_1608delinsAG | NP_001116212.1:p.Leu536Gln | |
| NM_001122741.2:c.1607_1608delinsAG | NP_001116213.1:p.Leu536Gln | |
| NM_001122742.2:c.1607_1608delinsAG | NP_001116214.1:p.Leu536Gln | |
| NM_001291230.2:c.1613_1614delinsAG | NP_001278159.1:p.Leu538Gln | |
| NM_001291241.2:c.1604_1605delinsAG | NP_001278170.1:p.Leu535Gln | |
| NM_001385568.1:c.1607_1608delinsAG | NP_001372497.1:p.Leu536Gln | |
| NM_001385569.1:c.1607_1608delinsAG | NP_001372498.1:p.Leu536Gln | |
| NM_001385570.1:c.*22_*23delinsAG | NP_001372499.1:n.*22_*23delinsAG | |
| NM_001385571.1:c.*22_*23delinsAG | NP_001372500.1:n.*22_*23delinsAG | |
| NM_001385572.1:c.*22_*23delinsAG | NP_001372501.1:n.*22_*23delinsAG |