Linked Data
dbSNP Id:
rs780331683
gnomAD v2:
11-108115477-CCT-C
gnomAD v3:
11-108244750-CCT-C
gnomAD v4:
11-108244750-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108244751_108244752del , CM000673.2:g.108244751_108244752del | GRCh38 |
| NC_000011.9:g.108115478_108115479del , CM000673.1:g.108115478_108115479del | GRCh37 |
| NC_000011.8:g.107620688_107620689del | NCBI36 |
| NG_009830.1:g.26920_26921del , LRG_135:g.26920_26921del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.663-37_663-36del | ENSP00000388058.2:n.663-37_663-36del | |
| ENST00000713593.1:c.*134-37_*134-36del | ENSP00000518889.1:n.*134-37_*134-36del | |
| ENST00000278616.9:c.663-37_663-36del | ENSP00000278616.4:n.663-37_663-36del | |
| ENST00000682430.1:n.762-37_762-36del | ||
| ENST00000682516.1:n.797-37_797-36del | ||
| ENST00000682956.1:n.797-37_797-36del | ||
| ENST00000683100.1:n.2973_2974del | ||
| ENST00000683174.1:n.813-37_813-36del | ||
| ENST00000683605.1:n.158-37_158-36del | ||
| ENST00000684037.1:c.663-37_663-36del | ENSP00000508245.1:n.663-37_663-36del | |
| ENST00000684061.1:n.797-37_797-36del | ||
| ENST00000684179.1:n.632-37_632-36del | ||
| ENST00000527805.6:c.663-37_663-36del | ENSP00000435747.2:n.663-37_663-36del | |
| ENST00000675595.1:c.498-37_498-36del | ENSP00000502563.1:n.498-37_498-36del | |
| ENST00000675843.1:c.663-37_663-36del MANE Select | ENSP00000501606.1:n.663-37_663-36del | |
| ENST00000278616.8:c.663-37_663-36del | ENSP00000278616.4:n.663-37_663-36del | |
| ENST00000452508.6:c.663-37_663-36del | ENSP00000388058.2:n.663-37_663-36del | |
| ENST00000527805.5:c.663-37_663-36del | ENSP00000435747.1:n.663-37_663-36del | |
| NM_000051.3:c.663-37_663-36del , LRG_135t1:c.663-37_663-36del | NP_000042.3:n.663-37_663-36del | |
| XM_005271561.3:c.663-37_663-36del | XP_005271618.2:n.663-37_663-36del | |
| XM_005271562.3:c.663-37_663-36del | XP_005271619.2:n.663-37_663-36del | |
| XM_006718843.2:c.663-37_663-36del | XP_006718906.1:n.663-37_663-36del | |
| XM_011542840.1:c.663-37_663-36del | XP_011541142.1:n.663-37_663-36del | |
| XM_011542841.1:c.663-37_663-36del | XP_011541143.1:n.663-37_663-36del | |
| XM_011542842.1:c.498-37_498-36del | XP_011541144.1:n.498-37_498-36del | |
| XM_011542843.1:c.663-37_663-36del | XP_011541145.1:n.663-37_663-36del | |
| XM_011542844.1:c.-382-37_-382-36del | XP_011541146.1:n.-382-37_-382-36del | |
| XM_011542846.1:c.663-37_663-36del | XP_011541148.1:n.663-37_663-36del | |
| NM_001351834.1:c.663-37_663-36del | NP_001338763.1:n.663-37_663-36del | |
| XM_005271562.5:c.663-37_663-36del | XP_005271619.2:n.663-37_663-36del | |
| XM_006718843.4:c.663-37_663-36del | XP_006718906.1:n.663-37_663-36del | |
| XM_011542840.3:c.663-37_663-36del | XP_011541142.1:n.663-37_663-36del | |
| XM_011542842.3:c.498-37_498-36del | XP_011541144.1:n.498-37_498-36del | |
| XM_011542843.2:c.663-37_663-36del | XP_011541145.1:n.663-37_663-36del | |
| XM_011542844.3:c.-382-37_-382-36del | XP_011541146.1:n.-382-37_-382-36del | |
| XM_017017789.2:c.663-37_663-36del | XP_016873278.1:n.663-37_663-36del | |
| XM_017017790.2:c.663-37_663-36del | XP_016873279.1:n.663-37_663-36del | |
| XM_017017791.1:c.663-37_663-36del | XP_016873280.1:n.663-37_663-36del | |
| XM_017017792.2:c.663-37_663-36del | XP_016873281.1:n.663-37_663-36del | |
| XR_002957150.1:n.1396-37_1396-36del | ||
| NM_001351834.2:c.663-37_663-36del | NP_001338763.1:n.663-37_663-36del | |
| NM_000051.4:c.663-37_663-36del MANE Select | NP_000042.3:n.663-37_663-36del |