Linked Data
dbSNP Id:
rs1565351789
gnomAD v4:
11-126271456-TGA-T
MyVariant Identifiers:
chr11:g.126141352_126141353del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126271459_126271460del , CM000673.2:g.126271459_126271460del | GRCh38 |
| NC_000011.9:g.126141354_126141355del , CM000673.1:g.126141354_126141355del | GRCh37 |
| NC_000011.8:g.125646564_125646565del | NCBI36 |
| NG_028029.1:g.7420_7421del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.286_287del | ||
| ENST00000532101.6:n.285_286del | ||
| ENST00000532125.2:c.108_109del | ENSP00000434178.2:p.Glu36AspfsTer2 | |
| ENST00000533839.6:c.85+2168_85+2169del | ENSP00000509952.1:n.85+2168_85+2169del | |
| ENST00000534011.6:n.384_385del | ||
| ENST00000685484.1:c.108_109del | ENSP00000510622.1:p.Glu36AspfsTer2 | |
| ENST00000685601.1:c.108_109del | ENSP00000510603.1:p.Glu36AspfsTer2 | |
| ENST00000685765.1:c.108_109del | ENSP00000509991.1:p.Glu36AspfsTer2 | |
| ENST00000685844.1:c.86-1510_86-1509del | ENSP00000509820.1:n.86-1510_86-1509del | |
| ENST00000685857.1:n.286_287del | ||
| ENST00000686242.1:c.86-1510_86-1509del | ENSP00000508950.1:n.86-1510_86-1509del | |
| ENST00000686888.1:c.108_109del | ENSP00000509619.1:p.Glu36AspfsTer2 | |
| ENST00000687699.1:c.232_233del | ENSP00000508878.1:n.232_233del | |
| ENST00000687786.1:n.1441_1442del | ||
| ENST00000688588.1:c.108_109del | ENSP00000510802.1:p.Glu36AspfsTer2 | |
| ENST00000688927.1:n.286_287del | ||
| ENST00000689283.1:c.210-1510_210-1509del | ENSP00000509050.1:n.210-1510_210-1509del | |
| ENST00000689477.1:c.*1_*2del | ENSP00000508945.1:n.*1_*2del | |
| ENST00000689765.1:c.86-1510_86-1509del | ENSP00000509625.1:n.86-1510_86-1509del | |
| ENST00000690512.1:c.86-1019_86-1018del | ENSP00000509793.1:n.86-1019_86-1018del | |
| ENST00000692039.1:c.194_195del | ENSP00000508821.1:p.Arg65IlefsTer? | |
| ENST00000692336.1:c.108_109del | ENSP00000508540.1:p.Glu36AspfsTer2 | |
| ENST00000693133.1:n.226-1510_226-1509del | ||
| ENST00000263578.10:c.108_109del MANE Select | ENSP00000263578.5:p.Glu36AspfsTer2 | |
| ENST00000263578.9:c.108_109del | ENSP00000263578.5:p.Glu36AspfsTer2 | |
| ENST00000524751.5:n.223-1510_223-1509del | ||
| ENST00000525083.5:n.122-1510_122-1509del | ||
| ENST00000525770.5:c.86-1510_86-1509del | ENSP00000434739.1:n.86-1510_86-1509del | |
| ENST00000526366.5:n.101-260_101-259del | ||
| ENST00000526525.1:n.246-1510_246-1509del | ||
| ENST00000527004.5:c.108_109del | ENSP00000436374.1:p.Glu36AspfsTer2 | |
| ENST00000529802.1:n.158_159del | ||
| ENST00000532101.5:n.331_332del | ||
| ENST00000532125.1:c.66_67del | ENSP00000434178.1:p.Glu22AspfsTer2 | |
| ENST00000533839.5:n.237+2168_237+2169del | ||
| ENST00000534011.5:n.158-1019_158-1018del | ||
| ENST00000534315.5:n.515_516del | ||
| NM_017547.3:c.108_109del | NP_060017.1:p.Glu36AspfsTer2 | |
| NR_037647.1:n.253-1510_253-1509del | ||
| NR_037648.1:n.294_295del | ||
| XM_006718880.2:c.-431_-430del | XP_006718943.1:n.-431_-430del | |
| XM_006718881.2:c.-232-1510_-232-1509del | XP_006718944.1:n.-232-1510_-232-1509del | |
| XM_011542895.1:c.-403_-402del | XP_011541197.1:n.-403_-402del | |
| XM_011542896.1:c.-423_-422del | XP_011541198.1:n.-423_-422del | |
| XM_006718881.3:c.-232-1510_-232-1509del | XP_006718944.1:n.-232-1510_-232-1509del | |
| XM_011542895.2:c.-403_-402del | XP_011541197.1:n.-403_-402del | |
| XM_011542896.2:c.-423_-422del | XP_011541198.1:n.-423_-422del | |
| XM_017018000.2:c.108_109del | XP_016873489.1:p.Glu36AspfsTer2 | |
| XM_017018001.1:c.-423_-422del | XP_016873490.1:n.-423_-422del | |
| XM_017018002.1:c.-224-1510_-224-1509del | XP_016873491.1:n.-224-1510_-224-1509del | |
| XM_017018003.2:c.-431_-430del | XP_016873492.1:n.-431_-430del | |
| XM_017018004.1:c.-431_-430del | XP_016873493.1:n.-431_-430del | |
| XM_017018005.1:c.-629_-628del | XP_016873494.1:n.-629_-628del | |
| XM_017018006.2:c.-431_-430del | XP_016873495.1:n.-431_-430del | |
| NM_017547.4:c.108_109del MANE Select | NP_060017.1:p.Glu36AspfsTer2 | |
| NR_037647.2:n.139-1510_139-1509del | ||
| NR_037648.2:n.285_286del |