Linked Data
dbSNP Id:
rs730880367
ExAC:
11:76922374 TG / T
gnomAD v2:
11-76922374-TG-T
MyVariant Identifiers:
chr11:g.76922375del (hg19)
chr11:g.77211331del (hg38)
chr11:g.77211330del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77211331del , CM000673.2:g.77211331del | GRCh38 |
| NC_000011.9:g.76922376del , CM000673.1:g.76922376del | GRCh37 |
| NC_000011.8:g.76600024del | NCBI36 |
| NG_009086.1:g.88067del | |
| NG_009086.2:g.88086del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6231del MANE Select | ENSP00000386331.3:p.Trp2077Ter | |
| ENST00000670577.1:c.4032del | ||
| ENST00000409619.6:c.6084del | ENSP00000386635.2:p.Trp2028Ter | |
| ENST00000409709.7:c.6231del | ENSP00000386331.3:p.Trp2077Ter | |
| ENST00000458169.2:c.3657del | ENSP00000417017.2:p.Trp1219Ter | |
| ENST00000458637.6:c.6117del | ENSP00000392185.2:p.Trp2039Ter | |
| ENST00000481328.7:n.3767del | ||
| ENST00000526863.2:n.25+420del | ||
| ENST00000605744.1:n.1698del | ||
| NM_000260.3:c.6231del | NP_000251.3:p.Trp2077Ter | |
| NM_001127180.1:c.6117del | NP_001120652.1:p.Trp2039Ter | |
| XM_005274012.2:c.6114del | XP_005274069.1:p.Trp2038Ter | |
| XM_006718558.2:c.6222del | XP_006718621.1:p.Trp2074Ter | |
| XM_006718559.2:c.6117del | XP_006718622.1:p.Trp2039Ter | |
| XM_006718560.2:c.6114del | XP_006718623.1:p.Trp2038Ter | |
| XM_006718561.2:c.6117del | XP_006718624.1:p.Trp2039Ter | |
| XM_011545044.1:c.6231del | XP_011543346.1:p.Trp2077Ter | |
| XM_011545045.1:c.6225del | XP_011543347.1:p.Trp2075Ter | |
| XM_011545046.1:c.6198del | XP_011543348.1:p.Trp2066Ter | |
| XM_011545047.1:c.6135del | XP_011543349.1:p.Trp2045Ter | |
| XM_011545048.1:c.6006del | XP_011543350.1:p.Trp2002Ter | |
| XM_011545049.1:c.5994del | XP_011543351.1:p.Trp1998Ter | |
| XM_011545050.1:c.5967del | XP_011543352.1:p.Trp1989Ter | |
| XM_011545051.1:c.6231del | XP_011543353.1:p.Trp2077Ter | |
| XR_949938.1:n.6551del | ||
| XR_949941.1:n.6525del | ||
| XM_011545044.2:c.6231del | XP_011543346.1:p.Trp2077Ter | |
| XM_011545046.2:c.6321del | XP_011543348.2:p.Trp2107Ter | |
| XM_011545050.2:c.5967del | XP_011543352.1:p.Trp1989Ter | |
| XM_017017778.1:c.6315del | XP_016873267.1:p.Trp2105Ter | |
| XM_017017779.1:c.6312del | XP_016873268.1:p.Trp2104Ter | |
| XM_017017780.1:c.6321del | XP_016873269.1:p.Trp2107Ter | |
| XM_017017781.1:c.6225del | XP_016873270.1:p.Trp2075Ter | |
| XM_017017782.1:c.6207del | XP_016873271.1:p.Trp2069Ter | |
| XM_017017783.1:c.6204del | XP_016873272.1:p.Trp2068Ter | |
| XM_017017784.1:c.6204del | XP_016873273.1:p.Trp2068Ter | |
| XM_017017785.1:c.6084del | XP_016873274.1:p.Trp2028Ter | |
| XM_017017786.1:c.6321del | XP_016873275.1:p.Trp2107Ter | |
| XM_017017788.1:c.6207del | XP_016873277.1:p.Trp2069Ter | |
| XR_001747885.1:n.6310del | ||
| XR_001747887.1:n.6296del | ||
| NM_000260.4:c.6231del MANE Select | NP_000251.3:p.Trp2077Ter | |
| NM_001127180.2:c.6117del | NP_001120652.1:p.Trp2039Ter | |
| NM_001369365.1:c.6084del | NP_001356294.1:p.Trp2028Ter |