Linked Data
dbSNP Id:
rs1568800521
gnomAD v2:
20-3652582-CT-C
MyVariant Identifiers:
chr20:g.3652583del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3671936del , CM000682.2:g.3671936del | GRCh38 |
| NC_000020.10:g.3652583del , CM000682.1:g.3652583del | GRCh37 |
| NC_000020.9:g.3600583del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.1647del MANE Select | ENSP00000348912.3:p.Asp550MetfsTer? | |
| ENST00000350009.6:c.1647del | ENSP00000322550.5:p.Asp550MetfsTer? | |
| ENST00000356518.6:c.1647del | ENSP00000348912.2:p.Asp550MetfsTer? | |
| ENST00000379861.8:c.1647del | ENSP00000369190.4:p.Asp550MetfsTer? | |
| ENST00000466620.5:n.1286del | ||
| ENST00000617732.1:c.*632-479del | ENSP00000483343.1:n.*632-479del | |
| ENST00000619289.4:c.1287del | ENSP00000484600.1:p.Asp430MetfsTer? | |
| NM_001282447.1:c.1647del | NP_001269376.1:p.Asp550MetfsTer? | |
| NM_025220.3:c.1647del | NP_079496.1:p.Asp550MetfsTer? | |
| NM_153202.2:c.1647del | NP_694882.1:p.Asp550MetfsTer? | |
| XM_005260843.1:c.1686del | XP_005260900.1:p.Asp563MetfsTer? | |
| XM_006723639.1:c.1686del | XP_006723702.1:p.Asp563MetfsTer? | |
| XM_006723640.1:c.1677del | XP_006723703.1:p.Asp560MetfsTer? | |
| XM_011529366.1:c.1683del | XP_011527668.1:p.Asp562MetfsTer? | |
| XM_011529367.1:c.1644del | XP_011527669.1:p.Asp549MetfsTer? | |
| XM_011529368.1:c.1686del | XP_011527670.1:p.Asp563MetfsTer? | |
| XM_011529369.1:c.1654del | XP_011527671.1:p.Arg552AspfsTer? | |
| XM_011529370.1:c.1654del | XP_011527672.1:p.Arg552AspfsTer? | |
| XM_011529373.1:c.684del | XP_011527675.1:p.Asp229MetfsTer? | |
| XR_937151.1:n.1790del | ||
| XR_937152.1:n.1790del | ||
| XR_937153.1:n.1671del | ||
| XR_937154.1:n.1671del | ||
| XR_937155.1:n.1592del | ||
| XR_937157.1:n.1594del | ||
| NM_001282447.2:c.1647del | NP_001269376.1:p.Asp550MetfsTer? | |
| NM_025220.4:c.1647del | NP_079496.1:p.Asp550MetfsTer? | |
| NM_153202.3:c.1647del | NP_694882.1:p.Asp550MetfsTer? | |
| XM_011529373.2:c.684del | XP_011527675.1:p.Asp229MetfsTer? | |
| XR_001754405.1:n.1758del | ||
| XR_002958534.1:n.1867del | ||
| NM_001282447.3:c.1647del | NP_001269376.1:p.Asp550MetfsTer? | |
| NM_025220.5:c.1647del MANE Select | NP_079496.1:p.Asp550MetfsTer? | |
| NM_153202.4:c.1647del | NP_694882.1:p.Asp550MetfsTer? |