Linked Data
ClinVar Variation Id:
294093
ClinVar RCV Id:
RCV000400263
dbSNP Id:
rs545770705
ExAC:
1:185703882 A / AG
gnomAD v2:
1-185703882-A-AG
gnomAD v3:
1-185734750-A-AG
gnomAD v4:
1-185734750-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.185734755dup , CM000663.2:g.185734755dup | GRCh38 |
| NC_000001.10:g.185703887dup , CM000663.1:g.185703887dup | GRCh37 |
| NC_000001.9:g.183970510dup | NCBI36 |
| NG_011841.1:g.5205dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271588.9:c.-25dup MANE Select | ENSP00000271588.4:n.-25dup | |
| ENST00000271588.8:c.-25dup | ENSP00000271588.4:n.-25dup | |
| NM_031935.2:c.-25dup | NP_114141.2:n.-25dup | |
| XM_011510037.1:c.-25dup | XP_011508339.1:n.-25dup | |
| XM_011510038.1:c.-25dup | XP_011508340.1:n.-25dup | |
| XM_011510039.1:c.-25dup | XP_011508341.1:n.-25dup | |
| XM_011510040.1:c.-25dup | XP_011508342.1:n.-25dup | |
| XM_011510041.1:c.-25dup | XP_011508343.1:n.-25dup | |
| XM_011510038.3:c.-25dup | XP_011508340.1:n.-25dup | |
| XM_011510041.3:c.-25dup | XP_011508343.1:n.-25dup | |
| XM_024450118.1:c.-25dup | XP_024305886.1:n.-25dup | |
| NM_031935.3:c.-25dup MANE Select | NP_114141.2:n.-25dup |