Linked Data
dbSNP Id:
rs763969276
ExAC:
20:3652393 AC / A
gnomAD v2:
20-3652393-AC-A
gnomAD v4:
20-3671746-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3671749del , CM000682.2:g.3671749del | GRCh38 |
| NC_000020.10:g.3652396del , CM000682.1:g.3652396del | GRCh37 |
| NC_000020.9:g.3600396del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.1739del MANE Select | ENSP00000348912.3:p.Gly580ValfsTer20 | |
| ENST00000350009.6:c.1739del | ENSP00000322550.5:p.Gly580ValfsTer20 | |
| ENST00000356518.6:c.1739del | ENSP00000348912.2:p.Gly580ValfsTer20 | |
| ENST00000379861.8:c.1739del | ENSP00000369190.4:p.Gly580ValfsTer20 | |
| ENST00000466620.5:n.1378del | ||
| ENST00000617732.1:c.*632-290del | ENSP00000483343.1:n.*632-290del | |
| ENST00000619289.4:c.1379del | ENSP00000484600.1:p.Gly460ValfsTer20 | |
| NM_001282447.1:c.1739del | NP_001269376.1:p.Gly580ValfsTer20 | |
| NM_025220.3:c.1739del | NP_079496.1:p.Gly580ValfsTer20 | |
| NM_153202.2:c.1739del | NP_694882.1:p.Gly580ValfsTer20 | |
| XM_005260843.1:c.1778del | XP_005260900.1:p.Gly593ValfsTer20 | |
| XM_006723639.1:c.1778del | XP_006723702.1:p.Gly593ValfsTer20 | |
| XM_006723640.1:c.1769del | XP_006723703.1:p.Gly590ValfsTer20 | |
| XM_011529366.1:c.1775del | XP_011527668.1:p.Gly592ValfsTer20 | |
| XM_011529367.1:c.1736del | XP_011527669.1:p.Gly579ValfsTer20 | |
| XM_011529368.1:c.1778del | XP_011527670.1:p.Gly593ValfsTer20 | |
| XM_011529369.1:c.1746del | XP_011527671.1:p.Trp583GlyfsTer? | |
| XM_011529370.1:c.1746del | XP_011527672.1:p.Trp583GlyfsTer? | |
| XM_011529373.1:c.776del | XP_011527675.1:p.Gly259ValfsTer20 | |
| XR_937151.1:n.1882del | ||
| XR_937152.1:n.1882del | ||
| XR_937153.1:n.1763del | ||
| XR_937154.1:n.1763del | ||
| XR_937155.1:n.1684del | ||
| XR_937157.1:n.1686del | ||
| NM_001282447.2:c.1739del | NP_001269376.1:p.Gly580ValfsTer20 | |
| NM_025220.4:c.1739del | NP_079496.1:p.Gly580ValfsTer20 | |
| NM_153202.3:c.1739del | NP_694882.1:p.Gly580ValfsTer20 | |
| XM_011529373.2:c.776del | XP_011527675.1:p.Gly259ValfsTer20 | |
| XR_001754405.1:n.1850del | ||
| XR_002958534.1:n.1959del | ||
| NM_001282447.3:c.1739del | NP_001269376.1:p.Gly580ValfsTer20 | |
| NM_025220.5:c.1739del MANE Select | NP_079496.1:p.Gly580ValfsTer20 | |
| NM_153202.4:c.1739del | NP_694882.1:p.Gly580ValfsTer20 |