ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108284230_108284231del , CM000673.2:g.108284230_108284231del | GRCh38 |
| NC_000011.9:g.108154957_108154958del , CM000673.1:g.108154957_108154958del | GRCh37 |
| NC_000011.8:g.107660167_107660168del | NCBI36 |
| NG_009830.1:g.66399_66400del , LRG_135:g.66399_66400del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.3750_3751del | ENSP00000388058.2:p.Cys1251LeufsTer2 | |
| ENST00000713593.1:c.*3221_*3222del | ENSP00000518889.1:n.*3221_*3222del | |
| ENST00000278616.9:c.3750_3751del | ENSP00000278616.4:p.Cys1251LeufsTer2 | |
| ENST00000682289.1:n.97_98del | ||
| ENST00000683174.1:n.3900_3901del | ||
| ENST00000527805.6:c.3750_3751del | ENSP00000435747.2:p.Cys1251LeufsTer2 | |
| ENST00000675595.1:c.3585_3586del | ENSP00000502563.1:p.Cys1196LeufsTer2 | |
| ENST00000675843.1:c.3750_3751del MANE Select | ENSP00000501606.1:p.Cys1251LeufsTer2 | |
| ENST00000278616.8:c.3750_3751del | ENSP00000278616.4:p.Cys1251LeufsTer2 | |
| ENST00000452508.6:c.3750_3751del | ENSP00000388058.2:p.Cys1251LeufsTer2 | |
| ENST00000527805.5:c.3750_3751del | ENSP00000435747.1:p.Cys1251LeufsTer2 | |
| NM_000051.3:c.3750_3751del , LRG_135t1:c.3750_3751del | NP_000042.3:p.Cys1251LeufsTer2 | |
| XM_005271561.3:c.3750_3751del | XP_005271618.2:p.Cys1251LeufsTer2 | |
| XM_005271562.3:c.3750_3751del | XP_005271619.2:p.Cys1251LeufsTer2 | |
| XM_006718843.2:c.3750_3751del | XP_006718906.1:p.Cys1251LeufsTer2 | |
| XM_011542840.1:c.3750_3751del | XP_011541142.1:p.Cys1251LeufsTer2 | |
| XM_011542841.1:c.3750_3751del | XP_011541143.1:p.Cys1251LeufsTer2 | |
| XM_011542842.1:c.3585_3586del | XP_011541144.1:p.Cys1196LeufsTer2 | |
| XM_011542843.1:c.3750_3751del | XP_011541145.1:p.Cys1251LeufsTer2 | |
| XM_011542844.1:c.2706_2707del | XP_011541146.1:p.Cys903LeufsTer2 | |
| XM_011542845.1:c.2442_2443del | XP_011541147.1:p.Cys815LeufsTer2 | |
| XM_011542846.1:c.3750_3751del | XP_011541148.1:p.Cys1251LeufsTer2 | |
| NM_001351834.1:c.3750_3751del | NP_001338763.1:p.Cys1251LeufsTer2 | |
| XM_005271562.5:c.3750_3751del | XP_005271619.2:p.Cys1251LeufsTer2 | |
| XM_006718843.4:c.3750_3751del | XP_006718906.1:p.Cys1251LeufsTer2 | |
| XM_011542840.3:c.3750_3751del | XP_011541142.1:p.Cys1251LeufsTer2 | |
| XM_011542842.3:c.3585_3586del | XP_011541144.1:p.Cys1196LeufsTer2 | |
| XM_011542843.2:c.3750_3751del | XP_011541145.1:p.Cys1251LeufsTer2 | |
| XM_011542844.3:c.2706_2707del | XP_011541146.1:p.Cys903LeufsTer2 | |
| XM_011542845.2:c.2442_2443del | XP_011541147.1:p.Cys815LeufsTer2 | |
| XM_017017789.2:c.3750_3751del | XP_016873278.1:p.Cys1251LeufsTer2 | |
| XM_017017790.2:c.3750_3751del | XP_016873279.1:p.Cys1251LeufsTer2 | |
| XM_017017791.1:c.3750_3751del | XP_016873280.1:p.Cys1251LeufsTer2 | |
| XM_017017792.2:c.3750_3751del | XP_016873281.1:p.Cys1251LeufsTer2 | |
| XR_002957150.1:n.4483_4484del | ||
| NM_001351834.2:c.3750_3751del | NP_001338763.1:p.Cys1251LeufsTer2 | |
| NM_000051.4:c.3750_3751del MANE Select | NP_000042.3:p.Cys1251LeufsTer2 |