Linked Data
dbSNP Id:
rs774646805
ExAC:
12:53701455 C / CA
gnomAD v2:
12-53701455-C-CA
gnomAD v4:
12-53307671-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307674dup , CM000674.2:g.53307674dup | GRCh38 |
| NC_000012.11:g.53701458dup , CM000674.1:g.53701458dup | GRCh37 |
| NC_000012.10:g.51987725dup | NCBI36 |
| NG_016775.1:g.18957dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1458dup MANE Select | ENSP00000209873.4:p.Val487CysfsTer9 | |
| ENST00000546562.6:n.2522dup | ||
| ENST00000547238.6:n.2094dup | ||
| ENST00000547520.6:n.1574dup | ||
| ENST00000547757.2:c.*376dup | ENSP00000448020.2:n.*376dup | |
| ENST00000548880.2:n.1908dup | ||
| ENST00000548931.6:c.893dup | ENSP00000457518.1:p.Leu298PhefsTer? | |
| ENST00000549450.6:n.1392dup | ||
| ENST00000552161.6:n.2536dup | ||
| ENST00000672797.1:n.1947dup | ||
| ENST00000209873.8:c.1458dup | ENSP00000209873.4:p.Val487CysfsTer9 | |
| ENST00000394384.7:c.1359dup | ENSP00000377908.3:p.Val454CysfsTer9 | |
| ENST00000548931.5:c.893dup | ENSP00000457518.1:p.Leu298PhefsTer? | |
| ENST00000550286.5:c.1086dup | ENSP00000446885.1:p.Val363CysfsTer9 | |
| ENST00000552876.5:n.1801dup | ||
| NM_001173466.1:c.1359dup | NP_001166937.1:p.Val454CysfsTer9 | |
| NM_015665.5:c.1458dup | NP_056480.1:p.Val487CysfsTer9 | |
| XM_006719617.2:c.1473dup | XP_006719680.1:p.Val492CysfsTer9 | |
| XM_011538777.1:c.1515dup | XP_011537079.1:p.Val506CysfsTer9 | |
| XM_011538778.1:c.1500dup | XP_011537080.1:p.Val501CysfsTer9 | |
| XM_011538779.1:c.1416dup | XP_011537081.1:p.Val473CysfsTer9 | |
| XM_011538780.1:c.1401dup | XP_011537082.1:p.Val468CysfsTer9 | |
| XM_011538781.1:c.849dup | XP_011537083.1:p.Val284CysfsTer9 | |
| XM_011538778.2:c.1500dup | XP_011537080.1:p.Val501CysfsTer9 | |
| XM_011538780.2:c.1401dup | XP_011537082.1:p.Val468CysfsTer9 | |
| XR_001748875.2:n.1515dup | ||
| NM_015665.6:c.1458dup MANE Select | NP_056480.1:p.Val487CysfsTer9 | |
| NM_001173466.2:c.1359dup | NP_001166937.1:p.Val454CysfsTer9 |