Linked Data
ClinVar Variation Id:
97066
ClinVar RCV Id:
RCV000083308
dbSNP Id:
rs587777104
gnomAD v4:
15-39953956-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39953957dup , CM000677.2:g.39953957dup | GRCh38 |
| NC_000015.9:g.40246158dup , CM000677.1:g.40246158dup | GRCh37 |
| NC_000015.8:g.38033450dup | NCBI36 |
| NG_034053.1:g.24834dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263791.10:c.567dup MANE Select | ENSP00000263791.5:p.Lys190GlufsTer8 | |
| ENST00000263791.9:c.567dup | ENSP00000263791.5:p.Lys190GlufsTer8 | |
| ENST00000559624.5:c.567dup | ENSP00000453148.1:p.Lys190GlufsTer8 | |
| NM_001013703.3:c.567dup | NP_001013725.2:p.Lys190GlufsTer8 | |
| XM_005254392.1:c.567dup | XP_005254449.1:p.Lys190GlufsTer8 | |
| XM_011521599.1:c.567dup | XP_011519901.1:p.Lys190GlufsTer8 | |
| XM_011521600.1:c.567dup | XP_011519902.1:p.Lys190GlufsTer8 | |
| XM_005254392.3:c.567dup | XP_005254449.1:p.Lys190GlufsTer8 | |
| XM_011521599.2:c.567dup | XP_011519901.1:p.Lys190GlufsTer8 | |
| XM_011521600.3:c.567dup | XP_011519902.1:p.Lys190GlufsTer8 | |
| XM_017022219.2:c.567dup | XP_016877708.1:p.Lys190GlufsTer8 | |
| NM_001013703.4:c.567dup MANE Select | NP_001013725.2:p.Lys190GlufsTer8 |