Linked Data
ClinVar Variation Id:
2581229
ClinVar RCV Id:
RCV003331634
dbSNP Id:
rs1193678595
gnomAD v2:
12-53701274-T-TA
gnomAD v3:
12-53307490-T-TA
gnomAD v4:
12-53307490-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307491dup , CM000674.2:g.53307491dup | GRCh38 |
| NC_000012.11:g.53701275dup , CM000674.1:g.53701275dup | GRCh37 |
| NC_000012.10:g.51987542dup | NCBI36 |
| NG_016775.1:g.19138dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1639dup MANE Select | ENSP00000209873.4:p.Ter547LeuextTer? | |
| ENST00000547757.2:c.*557dup | ENSP00000448020.2:n.*557dup | |
| ENST00000548931.6:c.1074dup | ||
| ENST00000549450.6:n.1573dup | ||
| ENST00000209873.8:c.1639dup | ENSP00000209873.4:p.Ter547LeuextTer? | |
| ENST00000394384.7:c.1540dup | ENSP00000377908.3:p.Ter514LeuextTer? | |
| ENST00000548931.5:c.1074dup | ||
| ENST00000550286.5:c.1267dup | ENSP00000446885.1:p.Ter423LeuextTer? | |
| ENST00000552876.5:n.1982dup | ||
| NM_001173466.1:c.1540dup | NP_001166937.1:p.Ter514LeuextTer? | |
| NM_015665.5:c.1639dup | NP_056480.1:p.Ter547LeuextTer? | |
| XM_006719617.2:c.1654dup | XP_006719680.1:p.Ter552LeuextTer? | |
| XM_011538777.1:c.1696dup | XP_011537079.1:p.Ter566LeuextTer? | |
| XM_011538778.1:c.1681dup | XP_011537080.1:p.Ter561LeuextTer? | |
| XM_011538779.1:c.1597dup | XP_011537081.1:p.Ter533LeuextTer? | |
| XM_011538780.1:c.1582dup | XP_011537082.1:p.Ter528LeuextTer? | |
| XM_011538781.1:c.1030dup | XP_011537083.1:p.Ter344LeuextTer? | |
| XM_011538778.2:c.1681dup | XP_011537080.1:p.Ter561LeuextTer? | |
| XM_011538780.2:c.1582dup | XP_011537082.1:p.Ter528LeuextTer? | |
| XR_001748875.2:n.1696dup | ||
| NM_015665.6:c.1639dup MANE Select | NP_056480.1:p.Ter547LeuextTer? | |
| NM_001173466.2:c.1540dup | NP_001166937.1:p.Ter514LeuextTer? |