Linked Data
ClinVar Variation Id:
2673466
ClinVar RCV Id:
RCV003450188
gnomAD v4:
11-108307919-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108307921_108307922del , CM000673.2:g.108307921_108307922del | GRCh38 |
| NC_000011.9:g.108178648_108178649del , CM000673.1:g.108178648_108178649del | GRCh37 |
| NC_000011.8:g.107683858_107683859del | NCBI36 |
| NG_009830.1:g.90090_90091del , LRG_135:g.90090_90091del | |
| NG_054724.1:g.166912_166913del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5699_5700del | ENSP00000388058.2:p.Cys1900PhefsTer3 | |
| ENST00000713593.1:c.*5170_*5171del | ENSP00000518889.1:n.*5170_*5171del | |
| ENST00000278616.9:c.5699_5700del | ENSP00000278616.4:p.Cys1900PhefsTer3 | |
| ENST00000525056.2:n.118_119del | ||
| ENST00000682286.1:n.456_457del | ||
| ENST00000682302.1:n.117_118del | ||
| ENST00000683174.1:n.7183_7184del | ||
| ENST00000683524.1:n.923_924del | ||
| ENST00000684152.1:n.1413_1414del | ||
| ENST00000527805.6:c.*763_*764del | ENSP00000435747.2:n.*763_*764del | |
| ENST00000675595.1:c.*763_*764del | ENSP00000502563.1:n.*763_*764del | |
| ENST00000675843.1:c.5699_5700del MANE Select | ENSP00000501606.1:p.Cys1900PhefsTer3 | |
| ENST00000278616.8:c.5699_5700del | ENSP00000278616.4:p.Cys1900PhefsTer3 | |
| ENST00000452508.6:c.5699_5700del | ENSP00000388058.2:p.Cys1900PhefsTer3 | |
| ENST00000524792.5:n.1914_1915del | ||
| ENST00000529588.5:c.187-2239_187-2238del | ||
| ENST00000533690.5:n.1103_1104del | ||
| NM_000051.3:c.5699_5700del , LRG_135t1:c.5699_5700del | NP_000042.3:p.Cys1900PhefsTer3 | |
| XM_005271561.3:c.5699_5700del | XP_005271618.2:p.Cys1900PhefsTer3 | |
| XM_005271562.3:c.5699_5700del | XP_005271619.2:p.Cys1900PhefsTer3 | |
| XM_006718843.2:c.5699_5700del | XP_006718906.1:p.Cys1900PhefsTer3 | |
| XM_006718845.1:c.1655_1656del | XP_006718908.1:p.Cys552PhefsTer3 | |
| XM_011542840.1:c.5699_5700del | XP_011541142.1:p.Cys1900PhefsTer3 | |
| XM_011542841.1:c.5699_5700del | XP_011541143.1:p.Cys1900PhefsTer3 | |
| XM_011542842.1:c.5534_5535del | XP_011541144.1:p.Cys1845PhefsTer3 | |
| XM_011542843.1:c.5699_5700del | XP_011541145.1:p.Cys1900PhefsTer3 | |
| XM_011542844.1:c.4655_4656del | XP_011541146.1:p.Cys1552PhefsTer3 | |
| XM_011542845.1:c.4391_4392del | XP_011541147.1:p.Cys1464PhefsTer3 | |
| XM_011542847.1:c.770_771del | XP_011541149.1:p.Cys257PhefsTer3 | |
| NM_001351834.1:c.5699_5700del | NP_001338763.1:p.Cys1900PhefsTer3 | |
| XM_005271562.5:c.5699_5700del | XP_005271619.2:p.Cys1900PhefsTer3 | |
| XM_006718843.4:c.5699_5700del | XP_006718906.1:p.Cys1900PhefsTer3 | |
| XM_006718845.2:c.1655_1656del | XP_006718908.1:p.Cys552PhefsTer3 | |
| XM_011542840.3:c.5699_5700del | XP_011541142.1:p.Cys1900PhefsTer3 | |
| XM_011542842.3:c.5534_5535del | XP_011541144.1:p.Cys1845PhefsTer3 | |
| XM_011542843.2:c.5699_5700del | XP_011541145.1:p.Cys1900PhefsTer3 | |
| XM_011542844.3:c.4655_4656del | XP_011541146.1:p.Cys1552PhefsTer3 | |
| XM_011542845.2:c.4391_4392del | XP_011541147.1:p.Cys1464PhefsTer3 | |
| XM_017017789.2:c.5699_5700del | XP_016873278.1:p.Cys1900PhefsTer3 | |
| XM_017017790.2:c.5699_5700del | XP_016873279.1:p.Cys1900PhefsTer3 | |
| XM_017017791.1:c.5699_5700del | XP_016873280.1:p.Cys1900PhefsTer3 | |
| XR_002957150.1:n.6299_6300del | ||
| NM_001351834.2:c.5699_5700del | NP_001338763.1:p.Cys1900PhefsTer3 | |
| NM_000051.4:c.5699_5700del MANE Select | NP_000042.3:p.Cys1900PhefsTer3 |