Linked Data
ClinVar Variation Id:
220114
dbSNP Id:
rs864622386
gnomAD v2:
11-108173567-CCTTT-C
gnomAD v4:
11-108302840-CCTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108302847_108302850del , CM000673.2:g.108302847_108302850del | GRCh38 |
| NC_000011.9:g.108173574_108173577del , CM000673.1:g.108173574_108173577del | GRCh37 |
| NC_000011.8:g.107678784_107678787del | NCBI36 |
| NG_009830.1:g.85016_85019del , LRG_135:g.85016_85019del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.5320-6_5320-3del | ENSP00000388058.2:n.5320-6_5320-3del | |
| ENST00000713593.1:c.*4791-6_*4791-3del | ENSP00000518889.1:n.*4791-6_*4791-3del | |
| ENST00000278616.9:c.5320-6_5320-3del | ENSP00000278616.4:n.5320-6_5320-3del | |
| ENST00000683174.1:n.6804-6_6804-3del | ||
| ENST00000683524.1:n.544-6_544-3del | ||
| ENST00000684152.1:n.1034-6_1034-3del | ||
| ENST00000527805.6:c.*384-6_*384-3del | ENSP00000435747.2:n.*384-6_*384-3del | |
| ENST00000675595.1:c.*384-6_*384-3del | ENSP00000502563.1:n.*384-6_*384-3del | |
| ENST00000675843.1:c.5320-6_5320-3del MANE Select | ENSP00000501606.1:n.5320-6_5320-3del | |
| ENST00000278616.8:c.5320-6_5320-3del | ENSP00000278616.4:n.5320-6_5320-3del | |
| ENST00000452508.6:c.5320-6_5320-3del | ENSP00000388058.2:n.5320-6_5320-3del | |
| ENST00000524792.5:n.1535-6_1535-3del | ||
| ENST00000533690.5:n.724-6_724-3del | ||
| ENST00000534625.1:n.549-6_549-3del | ||
| NM_000051.3:c.5320-6_5320-3del , LRG_135t1:c.5320-6_5320-3del | NP_000042.3:n.5320-6_5320-3del | |
| XM_005271561.3:c.5320-6_5320-3del | XP_005271618.2:n.5320-6_5320-3del | |
| XM_005271562.3:c.5320-6_5320-3del | XP_005271619.2:n.5320-6_5320-3del | |
| XM_006718843.2:c.5320-6_5320-3del | XP_006718906.1:n.5320-6_5320-3del | |
| XM_006718845.1:c.1276-6_1276-3del | XP_006718908.1:n.1276-6_1276-3del | |
| XM_011542840.1:c.5320-6_5320-3del | XP_011541142.1:n.5320-6_5320-3del | |
| XM_011542841.1:c.5320-6_5320-3del | XP_011541143.1:n.5320-6_5320-3del | |
| XM_011542842.1:c.5155-6_5155-3del | XP_011541144.1:n.5155-6_5155-3del | |
| XM_011542843.1:c.5320-6_5320-3del | XP_011541145.1:n.5320-6_5320-3del | |
| XM_011542844.1:c.4276-6_4276-3del | XP_011541146.1:n.4276-6_4276-3del | |
| XM_011542845.1:c.4012-6_4012-3del | XP_011541147.1:n.4012-6_4012-3del | |
| XM_011542846.1:c.5319-4_5319-1del | XP_011541148.1:n.5319-4_5319-1del | |
| XM_011542847.1:c.391-6_391-3del | XP_011541149.1:n.391-6_391-3del | |
| NM_001351834.1:c.5320-6_5320-3del | NP_001338763.1:n.5320-6_5320-3del | |
| XM_005271562.5:c.5320-6_5320-3del | XP_005271619.2:n.5320-6_5320-3del | |
| XM_006718843.4:c.5320-6_5320-3del | XP_006718906.1:n.5320-6_5320-3del | |
| XM_006718845.2:c.1276-6_1276-3del | XP_006718908.1:n.1276-6_1276-3del | |
| XM_011542840.3:c.5320-6_5320-3del | XP_011541142.1:n.5320-6_5320-3del | |
| XM_011542842.3:c.5155-6_5155-3del | XP_011541144.1:n.5155-6_5155-3del | |
| XM_011542843.2:c.5320-6_5320-3del | XP_011541145.1:n.5320-6_5320-3del | |
| XM_011542844.3:c.4276-6_4276-3del | XP_011541146.1:n.4276-6_4276-3del | |
| XM_011542845.2:c.4012-6_4012-3del | XP_011541147.1:n.4012-6_4012-3del | |
| XM_017017789.2:c.5320-6_5320-3del | XP_016873278.1:n.5320-6_5320-3del | |
| XM_017017790.2:c.5320-6_5320-3del | XP_016873279.1:n.5320-6_5320-3del | |
| XM_017017791.1:c.5320-6_5320-3del | XP_016873280.1:n.5320-6_5320-3del | |
| XM_017017792.2:c.*1-6_*1-3del | XP_016873281.1:n.*1-6_*1-3del | |
| XR_002957150.1:n.5920-6_5920-3del | ||
| NM_001351834.2:c.5320-6_5320-3del | NP_001338763.1:n.5320-6_5320-3del | |
| NM_000051.4:c.5320-6_5320-3del MANE Select | NP_000042.3:n.5320-6_5320-3del |