Linked Data
dbSNP Id:
rs1013510410
gnomAD v2:
11-126141231-CAT-C
gnomAD v3:
11-126271336-CAT-C
gnomAD v4:
11-126271336-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126271337_126271338del , CM000673.2:g.126271337_126271338del | GRCh38 |
| NC_000011.9:g.126141232_126141233del , CM000673.1:g.126141232_126141233del | GRCh37 |
| NC_000011.8:g.125646442_125646443del | NCBI36 |
| NG_028029.1:g.7298_7299del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.264-100_264-99del | ||
| ENST00000532101.6:n.163_164del | ||
| ENST00000532125.2:c.86-100_86-99del | ENSP00000434178.2:n.86-100_86-99del | |
| ENST00000533839.6:c.85+2046_85+2047del | ENSP00000509952.1:n.85+2046_85+2047del | |
| ENST00000534011.6:n.262_263del | ||
| ENST00000685484.1:c.86-100_86-99del | ENSP00000510622.1:n.86-100_86-99del | |
| ENST00000685601.1:c.86-100_86-99del | ENSP00000510603.1:n.86-100_86-99del | |
| ENST00000685765.1:c.86-100_86-99del | ENSP00000509991.1:n.86-100_86-99del | |
| ENST00000685844.1:c.86-1632_86-1631del | ENSP00000509820.1:n.86-1632_86-1631del | |
| ENST00000685857.1:n.264-100_264-99del | ||
| ENST00000686242.1:c.86-1632_86-1631del | ENSP00000508950.1:n.86-1632_86-1631del | |
| ENST00000686888.1:c.86-100_86-99del | ENSP00000509619.1:n.86-100_86-99del | |
| ENST00000687699.1:c.210-100_210-99del | ENSP00000508878.1:n.210-100_210-99del | |
| ENST00000687786.1:n.1319_1320del | ||
| ENST00000688588.1:c.86-100_86-99del | ENSP00000510802.1:n.86-100_86-99del | |
| ENST00000688927.1:n.264-100_264-99del | ||
| ENST00000689283.1:c.210-1632_210-1631del | ENSP00000509050.1:n.210-1632_210-1631del | |
| ENST00000689477.1:c.161+42_161+43del | ENSP00000508945.1:n.161+42_161+43del | |
| ENST00000689765.1:c.86-1632_86-1631del | ENSP00000509625.1:n.86-1632_86-1631del | |
| ENST00000690512.1:c.86-1141_86-1140del | ENSP00000509793.1:n.86-1141_86-1140del | |
| ENST00000692039.1:c.86-14_86-13del | ENSP00000508821.1:n.86-14_86-13del | |
| ENST00000692336.1:c.86-100_86-99del | ENSP00000508540.1:n.86-100_86-99del | |
| ENST00000693133.1:n.226-1632_226-1631del | ||
| ENST00000263578.10:c.86-100_86-99del MANE Select | ENSP00000263578.5:n.86-100_86-99del | |
| ENST00000263578.9:c.86-100_86-99del | ENSP00000263578.5:n.86-100_86-99del | |
| ENST00000524751.5:n.223-1632_223-1631del | ||
| ENST00000525083.5:n.122-1632_122-1631del | ||
| ENST00000525770.5:c.86-1632_86-1631del | ENSP00000434739.1:n.86-1632_86-1631del | |
| ENST00000526366.5:n.101-382_101-381del | ||
| ENST00000526525.1:n.246-1632_246-1631del | ||
| ENST00000527004.5:c.86-100_86-99del | ENSP00000436374.1:n.86-100_86-99del | |
| ENST00000529802.1:n.136-100_136-99del | ||
| ENST00000532101.5:n.209_210del | ||
| ENST00000532125.1:c.44-100_44-99del | ENSP00000434178.1:n.44-100_44-99del | |
| ENST00000533839.5:n.237+2046_237+2047del | ||
| ENST00000534011.5:n.158-1141_158-1140del | ||
| ENST00000534315.5:n.393_394del | ||
| NM_017547.3:c.86-100_86-99del | NP_060017.1:n.86-100_86-99del | |
| NR_037647.1:n.253-1632_253-1631del | ||
| NR_037648.1:n.272-100_272-99del | ||
| XM_006718880.2:c.-553_-552del | XP_006718943.1:n.-553_-552del | |
| XM_006718881.2:c.-232-1632_-232-1631del | XP_006718944.1:n.-232-1632_-232-1631del | |
| XM_011542895.1:c.-525_-524del | XP_011541197.1:n.-525_-524del | |
| XM_011542896.1:c.-445-100_-445-99del | XP_011541198.1:n.-445-100_-445-99del | |
| XM_006718881.3:c.-232-1632_-232-1631del | XP_006718944.1:n.-232-1632_-232-1631del | |
| XM_011542895.2:c.-525_-524del | XP_011541197.1:n.-525_-524del | |
| XM_011542896.2:c.-445-100_-445-99del | XP_011541198.1:n.-445-100_-445-99del | |
| XM_017018000.2:c.86-100_86-99del | XP_016873489.1:n.86-100_86-99del | |
| XM_017018001.1:c.-445-100_-445-99del | XP_016873490.1:n.-445-100_-445-99del | |
| XM_017018002.1:c.-224-1632_-224-1631del | XP_016873491.1:n.-224-1632_-224-1631del | |
| XM_017018003.2:c.-453-100_-453-99del | XP_016873492.1:n.-453-100_-453-99del | |
| XM_017018004.1:c.-553_-552del | XP_016873493.1:n.-553_-552del | |
| XM_017018005.1:c.-751_-750del | XP_016873494.1:n.-751_-750del | |
| XM_017018006.2:c.-453-100_-453-99del | XP_016873495.1:n.-453-100_-453-99del | |
| NM_017547.4:c.86-100_86-99del MANE Select | NP_060017.1:n.86-100_86-99del | |
| NR_037647.2:n.139-1632_139-1631del | ||
| NR_037648.2:n.263-100_263-99del |