Linked Data
dbSNP Id:
rs752210429
ExAC:
11:108178738 GT / G
gnomAD v2:
11-108178738-GT-G
gnomAD v3:
11-108308011-GT-G
gnomAD v4:
11-108308011-GT-G
MyVariant Identifiers:
chr11:g.108178739del (hg19)
chr11:g.108308013del (hg38)
chr11:g.108308012del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108308014del , CM000673.2:g.108308014del | GRCh38 |
| NC_000011.9:g.108178741del , CM000673.1:g.108178741del | GRCh37 |
| NC_000011.8:g.107683951del | NCBI36 |
| NG_009830.1:g.90183del , LRG_135:g.90183del | |
| NG_054724.1:g.166821del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5762+30del | ENSP00000388058.2:n.5762+30del | |
| ENST00000713593.1:c.*5233+30del | ENSP00000518889.1:n.*5233+30del | |
| ENST00000278616.9:c.5762+30del | ENSP00000278616.4:n.5762+30del | |
| ENST00000525056.2:n.181+30del | ||
| ENST00000682286.1:n.519+30del | ||
| ENST00000682302.1:n.180+30del | ||
| ENST00000683174.1:n.7246+30del | ||
| ENST00000683524.1:n.986+30del | ||
| ENST00000684152.1:n.1476+30del | ||
| ENST00000527805.6:c.*826+30del | ENSP00000435747.2:n.*826+30del | |
| ENST00000675595.1:c.*826+30del | ENSP00000502563.1:n.*826+30del | |
| ENST00000675843.1:c.5762+30del MANE Select | ENSP00000501606.1:n.5762+30del | |
| ENST00000278616.8:c.5762+30del | ENSP00000278616.4:n.5762+30del | |
| ENST00000452508.6:c.5762+30del | ENSP00000388058.2:n.5762+30del | |
| ENST00000524792.5:n.1977+30del | ||
| ENST00000529588.5:c.187-2146del | ||
| ENST00000532765.1:n.23del | ||
| ENST00000533690.5:n.1166+30del | ||
| NM_000051.3:c.5762+30del , LRG_135t1:c.5762+30del | NP_000042.3:n.5762+30del | |
| XM_005271561.3:c.5762+30del | XP_005271618.2:n.5762+30del | |
| XM_005271562.3:c.5762+30del | XP_005271619.2:n.5762+30del | |
| XM_006718843.2:c.5762+30del | XP_006718906.1:n.5762+30del | |
| XM_006718845.1:c.1718+30del | XP_006718908.1:n.1718+30del | |
| XM_011542840.1:c.5762+30del | XP_011541142.1:n.5762+30del | |
| XM_011542841.1:c.5762+30del | XP_011541143.1:n.5762+30del | |
| XM_011542842.1:c.5597+30del | XP_011541144.1:n.5597+30del | |
| XM_011542843.1:c.5762+30del | XP_011541145.1:n.5762+30del | |
| XM_011542844.1:c.4718+30del | XP_011541146.1:n.4718+30del | |
| XM_011542845.1:c.4454+30del | XP_011541147.1:n.4454+30del | |
| XM_011542847.1:c.833+30del | XP_011541149.1:n.833+30del | |
| NM_001351834.1:c.5762+30del | NP_001338763.1:n.5762+30del | |
| XM_005271562.5:c.5762+30del | XP_005271619.2:n.5762+30del | |
| XM_006718843.4:c.5762+30del | XP_006718906.1:n.5762+30del | |
| XM_006718845.2:c.1718+30del | XP_006718908.1:n.1718+30del | |
| XM_011542840.3:c.5762+30del | XP_011541142.1:n.5762+30del | |
| XM_011542842.3:c.5597+30del | XP_011541144.1:n.5597+30del | |
| XM_011542843.2:c.5762+30del | XP_011541145.1:n.5762+30del | |
| XM_011542844.3:c.4718+30del | XP_011541146.1:n.4718+30del | |
| XM_011542845.2:c.4454+30del | XP_011541147.1:n.4454+30del | |
| XM_017017789.2:c.5762+30del | XP_016873278.1:n.5762+30del | |
| XM_017017790.2:c.5762+30del | XP_016873279.1:n.5762+30del | |
| XM_017017791.1:c.5762+30del | XP_016873280.1:n.5762+30del | |
| XR_002957150.1:n.6362+30del | ||
| NM_001351834.2:c.5762+30del | NP_001338763.1:n.5762+30del | |
| NM_000051.4:c.5762+30del MANE Select | NP_000042.3:n.5762+30del |