Linked Data
dbSNP Id:
rs1476805314
gnomAD v2:
11-126141357-TAAG-T
gnomAD v3:
11-126271462-TAAG-T
gnomAD v4:
11-126271462-TAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126271470_126271472del , CM000673.2:g.126271470_126271472del | GRCh38 |
| NC_000011.9:g.126141365_126141367del , CM000673.1:g.126141365_126141367del | GRCh37 |
| NC_000011.8:g.125646575_125646577del | NCBI36 |
| NG_028029.1:g.7431_7433del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.297_299del | ||
| ENST00000532101.6:n.296_298del | ||
| ENST00000532125.2:c.119_121del | ENSP00000434178.2:p.Lys40del | |
| ENST00000533839.6:c.85+2179_85+2181del | ENSP00000509952.1:n.85+2179_85+2181del | |
| ENST00000534011.6:n.395_397del | ||
| ENST00000685484.1:c.119_121del | ENSP00000510622.1:p.Lys40del | |
| ENST00000685601.1:c.119_121del | ENSP00000510603.1:p.Lys40del | |
| ENST00000685765.1:c.119_121del | ENSP00000509991.1:p.Lys40del | |
| ENST00000685844.1:c.86-1499_86-1497del | ENSP00000509820.1:n.86-1499_86-1497del | |
| ENST00000685857.1:n.297_299del | ||
| ENST00000686242.1:c.86-1499_86-1497del | ENSP00000508950.1:n.86-1499_86-1497del | |
| ENST00000686888.1:c.119_121del | ENSP00000509619.1:p.Lys40del | |
| ENST00000687699.1:c.243_245del | ENSP00000508878.1:n.243_245del | |
| ENST00000687786.1:n.1452_1454del | ||
| ENST00000688588.1:c.119_121del | ENSP00000510802.1:p.Lys40del | |
| ENST00000688927.1:n.297_299del | ||
| ENST00000689283.1:c.210-1499_210-1497del | ENSP00000509050.1:n.210-1499_210-1497del | |
| ENST00000689477.1:c.*12_*14del | ENSP00000508945.1:n.*12_*14del | |
| ENST00000689765.1:c.86-1499_86-1497del | ENSP00000509625.1:n.86-1499_86-1497del | |
| ENST00000690512.1:c.86-1008_86-1006del | ENSP00000509793.1:n.86-1008_86-1006del | |
| ENST00000692039.1:c.205_207del | ENSP00000508821.1:p.Arg69del | |
| ENST00000692336.1:c.119_121del | ENSP00000508540.1:p.Lys40del | |
| ENST00000693133.1:n.226-1499_226-1497del | ||
| ENST00000263578.10:c.119_121del MANE Select | ENSP00000263578.5:p.Lys40del | |
| ENST00000263578.9:c.119_121del | ENSP00000263578.5:p.Lys40del | |
| ENST00000524751.5:n.223-1499_223-1497del | ||
| ENST00000525083.5:n.122-1499_122-1497del | ||
| ENST00000525770.5:c.86-1499_86-1497del | ENSP00000434739.1:n.86-1499_86-1497del | |
| ENST00000526366.5:n.101-249_101-247del | ||
| ENST00000526525.1:n.246-1499_246-1497del | ||
| ENST00000527004.5:c.119_121del | ENSP00000436374.1:p.Lys40del | |
| ENST00000529802.1:n.169_171del | ||
| ENST00000532101.5:n.342_344del | ||
| ENST00000532125.1:c.77_79del | ENSP00000434178.1:p.Lys26del | |
| ENST00000533839.5:n.237+2179_237+2181del | ||
| ENST00000534011.5:n.158-1008_158-1006del | ||
| ENST00000534315.5:n.526_528del | ||
| NM_017547.3:c.119_121del | NP_060017.1:p.Lys40del | |
| NR_037647.1:n.253-1499_253-1497del | ||
| NR_037648.1:n.305_307del | ||
| XM_006718880.2:c.-420_-418del | XP_006718943.1:n.-420_-418del | |
| XM_006718881.2:c.-232-1499_-232-1497del | XP_006718944.1:n.-232-1499_-232-1497del | |
| XM_011542895.1:c.-392_-390del | XP_011541197.1:n.-392_-390del | |
| XM_011542896.1:c.-412_-410del | XP_011541198.1:n.-412_-410del | |
| XM_006718881.3:c.-232-1499_-232-1497del | XP_006718944.1:n.-232-1499_-232-1497del | |
| XM_011542895.2:c.-392_-390del | XP_011541197.1:n.-392_-390del | |
| XM_011542896.2:c.-412_-410del | XP_011541198.1:n.-412_-410del | |
| XM_017018000.2:c.119_121del | XP_016873489.1:p.Lys40del | |
| XM_017018001.1:c.-412_-410del | XP_016873490.1:n.-412_-410del | |
| XM_017018002.1:c.-224-1499_-224-1497del | XP_016873491.1:n.-224-1499_-224-1497del | |
| XM_017018003.2:c.-420_-418del | XP_016873492.1:n.-420_-418del | |
| XM_017018004.1:c.-420_-418del | XP_016873493.1:n.-420_-418del | |
| XM_017018005.1:c.-618_-616del | XP_016873494.1:n.-618_-616del | |
| XM_017018006.2:c.-420_-418del | XP_016873495.1:n.-420_-418del | |
| NM_017547.4:c.119_121del MANE Select | NP_060017.1:p.Lys40del | |
| NR_037647.2:n.139-1499_139-1497del | ||
| NR_037648.2:n.296_298del |