Linked Data
ClinVar Variation Id:
2674929
ClinVar RCV Id:
RCV003467842
gnomAD v4:
1-97450056-T-TA
COSMIC:
COSM5802195
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97450057dup , CM000663.2:g.97450057dup | GRCh38 |
| NC_000001.10:g.97915613dup , CM000663.1:g.97915613dup | GRCh37 |
| NC_000001.9:g.97688201dup | NCBI36 |
| NG_008807.2:g.476003dup , LRG_722:g.476003dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1905+2dup MANE Select | ENSP00000359211.3:n.1905+2dup | |
| ENST00000370192.7:c.1905+2dup | ENSP00000359211.3:n.1905+2dup | |
| NM_000110.3:c.1905+2dup , LRG_722t1:c.1905+2dup | NP_000101.2:n.1905+2dup | |
| XM_005270562.3:c.1689+2dup | XP_005270619.2:n.1689+2dup | |
| XM_006710397.2:c.1905+2dup | XP_006710460.1:n.1905+2dup | |
| XM_006710397.3:c.1905+2dup | XP_006710460.1:n.1905+2dup | |
| XM_017000507.1:c.1794+2dup | XP_016855996.1:n.1794+2dup | |
| XM_017000508.2:c.1410+2dup | XP_016855997.1:n.1410+2dup | |
| XM_017000509.2:c.1410+2dup | XP_016855998.1:n.1410+2dup | |
| XM_017000510.1:c.1410+2dup | XP_016855999.1:n.1410+2dup | |
| NM_000110.4:c.1905+2dup MANE Select | NP_000101.2:n.1905+2dup |