Linked Data
ClinVar Variation Id:
236738
dbSNP Id:
rs878853522
ExAC:
11:108173701 TG / T
gnomAD v2:
11-108173701-TG-T
gnomAD v4:
11-108302974-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108302976del , CM000673.2:g.108302976del | GRCh38 |
| NC_000011.9:g.108173703del , CM000673.1:g.108173703del | GRCh37 |
| NC_000011.8:g.107678913del | NCBI36 |
| NG_009830.1:g.85145del , LRG_135:g.85145del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.5443del | ENSP00000388058.2:p.Asp1815ThrfsTer13 | |
| ENST00000713593.1:c.*4914del | ENSP00000518889.1:n.*4914del | |
| ENST00000278616.9:c.5443del | ENSP00000278616.4:p.Asp1815ThrfsTer13 | |
| ENST00000683174.1:n.6927del | ||
| ENST00000683524.1:n.667del | ||
| ENST00000684152.1:n.1157del | ||
| ENST00000527805.6:c.*507del | ENSP00000435747.2:n.*507del | |
| ENST00000675595.1:c.*507del | ENSP00000502563.1:n.*507del | |
| ENST00000675843.1:c.5443del MANE Select | ENSP00000501606.1:p.Asp1815ThrfsTer13 | |
| ENST00000278616.8:c.5443del | ENSP00000278616.4:p.Asp1815ThrfsTer13 | |
| ENST00000452508.6:c.5443del | ENSP00000388058.2:p.Asp1815ThrfsTer13 | |
| ENST00000524792.5:n.1658del | ||
| ENST00000533690.5:n.847del | ||
| ENST00000534625.1:n.672del | ||
| NM_000051.3:c.5443del , LRG_135t1:c.5443del | NP_000042.3:p.Asp1815ThrfsTer13 | |
| XM_005271561.3:c.5443del | XP_005271618.2:p.Asp1815ThrfsTer13 | |
| XM_005271562.3:c.5443del | XP_005271619.2:p.Asp1815ThrfsTer13 | |
| XM_006718843.2:c.5443del | XP_006718906.1:p.Asp1815ThrfsTer13 | |
| XM_006718845.1:c.1399del | XP_006718908.1:p.Asp467ThrfsTer13 | |
| XM_011542840.1:c.5443del | XP_011541142.1:p.Asp1815ThrfsTer13 | |
| XM_011542841.1:c.5443del | XP_011541143.1:p.Asp1815ThrfsTer13 | |
| XM_011542842.1:c.5278del | XP_011541144.1:p.Asp1760ThrfsTer13 | |
| XM_011542843.1:c.5443del | XP_011541145.1:p.Asp1815ThrfsTer13 | |
| XM_011542844.1:c.4399del | XP_011541146.1:p.Asp1467ThrfsTer13 | |
| XM_011542845.1:c.4135del | XP_011541147.1:p.Asp1379ThrfsTer13 | |
| XM_011542847.1:c.514del | XP_011541149.1:p.Asp172ThrfsTer13 | |
| NM_001351834.1:c.5443del | NP_001338763.1:p.Asp1815ThrfsTer13 | |
| XM_005271562.5:c.5443del | XP_005271619.2:p.Asp1815ThrfsTer13 | |
| XM_006718843.4:c.5443del | XP_006718906.1:p.Asp1815ThrfsTer13 | |
| XM_006718845.2:c.1399del | XP_006718908.1:p.Asp467ThrfsTer13 | |
| XM_011542840.3:c.5443del | XP_011541142.1:p.Asp1815ThrfsTer13 | |
| XM_011542842.3:c.5278del | XP_011541144.1:p.Asp1760ThrfsTer13 | |
| XM_011542843.2:c.5443del | XP_011541145.1:p.Asp1815ThrfsTer13 | |
| XM_011542844.3:c.4399del | XP_011541146.1:p.Asp1467ThrfsTer13 | |
| XM_011542845.2:c.4135del | XP_011541147.1:p.Asp1379ThrfsTer13 | |
| XM_017017789.2:c.5443del | XP_016873278.1:p.Asp1815ThrfsTer13 | |
| XM_017017790.2:c.5443del | XP_016873279.1:p.Asp1815ThrfsTer13 | |
| XM_017017791.1:c.5443del | XP_016873280.1:p.Asp1815ThrfsTer13 | |
| XR_002957150.1:n.6043del | ||
| NM_001351834.2:c.5443del | NP_001338763.1:p.Asp1815ThrfsTer13 | |
| NM_000051.4:c.5443del MANE Select | NP_000042.3:p.Asp1815ThrfsTer13 |