Linked Data
dbSNP Id:
rs748036779
ExAC:
1:43296707 TGAG / T
gnomAD v2:
1-43296707-TGAG-T
gnomAD v3:
1-42831036-TGAG-T
gnomAD v4:
1-42831036-TGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42831039_42831041del , CM000663.2:g.42831039_42831041del | GRCh38 |
| NC_000001.10:g.43296710_43296712del , CM000663.1:g.43296710_43296712del | GRCh37 |
| NC_000001.9:g.43069297_43069299del | NCBI36 |
| NG_008749.1:g.18935_18937del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372517.8:c.357_359del MANE Select | ENSP00000361595.2:p.Glu119del | |
| ENST00000487556.6:n.452-3999_452-3997del | ||
| ENST00000642150.1:n.544_546del | ||
| ENST00000647120.1:n.248-3999_248-3997del | ||
| ENST00000328249.3:c.87_89del | ENSP00000332439.3:p.Glu29del | |
| ENST00000372514.7:c.357_359del | ENSP00000361592.3:p.Glu119del | |
| ENST00000372517.6:c.357_359del | ENSP00000361595.2:p.Glu119del | |
| ENST00000487556.5:n.247-3999_247-3997del | ||
| NM_001017922.1:c.357_359del | NP_001017922.1:p.Glu119del | |
| NM_018538.3:c.357_359del | NP_061008.2:p.Glu119del | |
| XM_006710313.2:c.357_359del | XP_006710376.1:p.Glu119del | |
| XM_011540570.1:c.357_359del | XP_011538872.1:p.Glu119del | |
| XM_011540571.1:c.357_359del | XP_011538873.1:p.Glu119del | |
| XM_006710313.4:c.357_359del | XP_006710376.1:p.Glu119del | |
| XM_011540570.3:c.357_359del | XP_011538872.1:p.Glu119del | |
| XM_011540571.3:c.357_359del | XP_011538873.1:p.Glu119del | |
| NM_001017922.2:c.357_359del MANE Select | NP_001017922.1:p.Glu119del | |
| NM_018538.4:c.357_359del | NP_061008.2:p.Glu119del |