Linked Data
ClinVar Variation Id:
2585520
ClinVar RCV Id:
RCV003338136
dbSNP Id:
rs761869951
ExAC:
17:8135429 TG / T
gnomAD v2:
17-8135429-TG-T
gnomAD v4:
17-8232111-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8232115del , CM000679.2:g.8232115del | GRCh38 |
| NC_000017.10:g.8135433del , CM000679.1:g.8135433del | GRCh37 |
| NC_000017.9:g.8076158del | NCBI36 |
| NG_032148.1:g.20984del | |
| NG_032148.2:g.20984del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.2176del | ENSP00000462607.2:p.His726ThrfsTer2 | |
| ENST00000581729.2:c.2176del | ENSP00000462720.2:p.His726ThrfsTer2 | |
| ENST00000581967.2:n.2628del | ||
| ENST00000583254.2:n.2882del | ||
| ENST00000699849.1:c.1279del | ENSP00000514647.1:p.His427ThrfsTer2 | |
| ENST00000699850.1:n.1439del | ||
| ENST00000699851.1:n.2198del | ||
| ENST00000699852.1:c.*852del | ENSP00000514648.1:n.*852del | |
| ENST00000699853.1:c.2176del | ENSP00000514649.1:p.His726ThrfsTer2 | |
| ENST00000699854.1:n.1969del | ||
| ENST00000699855.1:n.2628del | ||
| ENST00000699856.1:c.2176del | ENSP00000514650.1:p.His726ThrfsTer2 | |
| ENST00000699857.1:n.2184del | ||
| ENST00000699858.1:c.*789del | ENSP00000514651.1:n.*789del | |
| ENST00000699859.1:c.2047del | ENSP00000514652.1:p.His683ThrfsTer2 | |
| ENST00000699860.1:n.282del | ||
| ENST00000699861.1:n.2198del | ||
| ENST00000699862.1:n.3136del | ||
| ENST00000449476.7:c.2071del | ENSP00000396018.2:p.His691ThrfsTer2 | |
| ENST00000581671.2:n.2165del | ||
| ENST00000643543.1:c.*883del | ENSP00000494323.1:n.*883del | |
| ENST00000651323.1:c.2176del MANE Select | ENSP00000498499.1:p.His726ThrfsTer2 | |
| ENST00000315684.12:c.2176del | ENSP00000313759.8:p.His726ThrfsTer2 | |
| ENST00000449476.6:c.2071del | ENSP00000396018.2:p.His691ThrfsTer2 | |
| ENST00000578240.1:n.404del | ||
| ENST00000578537.1:c.72del | ||
| NM_025099.5:c.2176del | NP_079375.3:p.His726ThrfsTer2 | |
| NR_046431.1:n.2130del | ||
| XM_006721577.2:c.2047del | XP_006721640.1:p.His683ThrfsTer2 | |
| XM_006721578.2:c.2176del | XP_006721641.1:p.His726ThrfsTer2 | |
| XM_006721579.2:c.2176del | XP_006721642.1:p.His726ThrfsTer2 | |
| XM_011524010.1:c.2071del | XP_011522312.1:p.His691ThrfsTer2 | |
| XM_011524011.1:c.1279del | XP_011522313.1:p.His427ThrfsTer2 | |
| XR_429823.2:n.2219del | ||
| XR_429824.2:n.2219del | ||
| XR_429825.1:n.2219del | ||
| NM_025099.6:c.2176del MANE Select | NP_079375.3:p.His726ThrfsTer2 | |
| XM_006721577.3:c.2047del | XP_006721640.1:p.His683ThrfsTer2 | |
| XM_006721578.3:c.2176del | XP_006721641.1:p.His726ThrfsTer2 | |
| XM_011524010.2:c.2071del | XP_011522312.1:p.His691ThrfsTer2 | |
| XM_011524011.2:c.1279del | XP_011522313.1:p.His427ThrfsTer2 | |
| XR_001752639.1:n.2090del | ||
| XR_001752640.1:n.2219del | ||
| XR_001752641.1:n.2219del | ||
| XR_001752642.1:n.2219del | ||
| XR_001752643.1:n.2649del | ||
| XR_002958073.1:n.2219del | ||
| XR_429823.3:n.2219del | ||
| XR_429824.3:n.2219del | ||
| NR_046431.2:n.2091del |