Linked Data
ClinVar Variation Id:
3004548
ClinVar RCV Id:
RCV003860651
dbSNP Id:
rs1211389550
gnomAD v2:
1-3747700-GT-G
gnomAD v4:
1-3831136-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3831137del , CM000663.2:g.3831137del | GRCh38 |
| NC_000001.10:g.3747701del , CM000663.1:g.3747701del | GRCh37 |
| NC_000001.9:g.3737561del | NCBI36 |
| NG_046726.1:g.31097del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378230.8:c.1745del MANE Select | ENSP00000367476.3:p.His582ProfsTer4 | |
| ENST00000428079.6:c.1745del | ENSP00000394989.2:p.His582ProfsTer4 | |
| ENST00000438539.6:n.792del | ||
| ENST00000461667.2:c.1745del | ENSP00000463605.2:p.His582ProfsTer4 | |
| ENST00000674544.1:c.1571del | ENSP00000502641.1:p.His524ProfsTer4 | |
| ENST00000674558.1:c.1745del | ENSP00000501829.1:p.His582ProfsTer4 | |
| ENST00000674623.1:c.1745del | ENSP00000501733.1:p.His582ProfsTer4 | |
| ENST00000674879.1:n.2681del | ||
| ENST00000674985.1:c.*603del | ENSP00000502482.1:n.*603del | |
| ENST00000675108.1:c.*1661del | ENSP00000502131.1:n.*1661del | |
| ENST00000675200.1:c.1571del | ENSP00000502512.1:p.His524ProfsTer4 | |
| ENST00000675334.1:n.1549del | ||
| ENST00000675375.1:c.1571del | ENSP00000502180.1:p.His524ProfsTer4 | |
| ENST00000675666.1:c.1745del | ENSP00000502548.1:p.His582ProfsTer4 | |
| ENST00000675677.1:c.1547del | ENSP00000501944.1:p.His516ProfsTer4 | |
| ENST00000675750.1:c.*1074del | ENSP00000502342.1:n.*1074del | |
| ENST00000675966.1:n.3417del | ||
| ENST00000676009.1:c.1745del | ENSP00000502246.1:p.His582ProfsTer4 | |
| ENST00000676052.1:c.1763del | ENSP00000502793.1:p.His588ProfsTer4 | |
| ENST00000378230.7:c.1745del | ENSP00000367476.3:p.His582ProfsTer4 | |
| ENST00000460038.5:n.650del | ||
| ENST00000495701.1:n.88del | ||
| NM_014704.3:c.1745del | NP_055519.1:p.His582ProfsTer4 | |
| XM_005244815.3:c.1853del | XP_005244872.1:p.His618ProfsTer4 | |
| XM_011542473.1:c.1871del | XP_011540775.1:p.His624ProfsTer4 | |
| XM_011542474.1:c.1763del | XP_011540776.1:p.His588ProfsTer4 | |
| XM_011542475.1:c.1697del | XP_011540777.1:p.His566ProfsTer4 | |
| XM_011542476.1:c.1673del | XP_011540778.1:p.His558ProfsTer4 | |
| XM_011542477.1:c.1499del | XP_011540779.1:p.His500ProfsTer4 | |
| XM_011542478.1:c.1871del | XP_011540780.1:p.His624ProfsTer4 | |
| XM_005244815.4:c.1853del | XP_005244872.1:p.His618ProfsTer4 | |
| XM_011542474.3:c.1763del | XP_011540776.1:p.His588ProfsTer4 | |
| XM_017002918.2:c.1571del | XP_016858407.1:p.His524ProfsTer4 | |
| XM_017002919.2:c.1547del | XP_016858408.1:p.His516ProfsTer4 | |
| XM_024451101.1:c.1871del | XP_024306869.1:p.His624ProfsTer4 | |
| XM_024451102.1:c.1697del | XP_024306870.1:p.His566ProfsTer4 | |
| XM_024451103.1:c.1679del | XP_024306871.1:p.His560ProfsTer4 | |
| XM_024451104.1:c.1673del | XP_024306872.1:p.His558ProfsTer4 | |
| XM_024451106.1:c.1499del | XP_024306874.1:p.His500ProfsTer4 | |
| XM_024451108.1:c.1871del | XP_024306876.1:p.His624ProfsTer4 | |
| NM_014704.4:c.1745del MANE Select | NP_055519.1:p.His582ProfsTer4 |