Linked Data
ClinVar Variation Id:
1970579
ClinVar RCV Id:
RCV002735386
dbSNP Id:
rs1656082647
gnomAD v4:
1-186039724-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186039725dup , CM000663.2:g.186039725dup | GRCh38 |
| NC_000001.10:g.186008857dup , CM000663.1:g.186008857dup | GRCh37 |
| NC_000001.9:g.184275480dup | NCBI36 |
| NG_011841.1:g.310175dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.6029-3dup MANE Select | ENSP00000271588.4:n.6029-3dup | |
| ENST00000271588.8:c.6029-3dup | ENSP00000271588.4:n.6029-3dup | |
| NM_031935.2:c.6029-3dup | NP_114141.2:n.6029-3dup | |
| XM_011510037.1:c.6029-3dup | XP_011508339.1:n.6029-3dup | |
| XM_011510038.1:c.6029-3dup | XP_011508340.1:n.6029-3dup | |
| XM_011510039.1:c.6029-3dup | XP_011508341.1:n.6029-3dup | |
| XM_011510040.1:c.6029-3dup | XP_011508342.1:n.6029-3dup | |
| XM_011510041.1:c.6029-3dup | XP_011508343.1:n.6029-3dup | |
| XM_011510038.3:c.6029-3dup | XP_011508340.1:n.6029-3dup | |
| XM_011510041.3:c.6029-3dup | XP_011508343.1:n.6029-3dup | |
| XM_017002437.1:c.4052-3dup | XP_016857926.1:n.4052-3dup | |
| XM_024450118.1:c.6029-3dup | XP_024305886.1:n.6029-3dup | |
| NM_031935.3:c.6029-3dup MANE Select | NP_114141.2:n.6029-3dup |