Linked Data
dbSNP Id:
rs1223230718
gnomAD v2:
9-125143357-CCA-C
gnomAD v3:
9-122381078-CCA-C
gnomAD v4:
9-122381078-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.122381081_122381082del , CM000671.2:g.122381081_122381082del | GRCh38 |
| NC_000009.11:g.125143360_125143361del , CM000671.1:g.125143360_125143361del | GRCh37 |
| NC_000009.10:g.124183181_124183182del | NCBI36 |
| NG_032900.1:g.15132_15133del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362012.7:c.497-290_497-289del MANE Select | ENSP00000354612.2:n.497-290_497-289del | |
| ENST00000373698.7:c.170-290_170-289del | ENSP00000362802.5:n.170-290_170-289del | |
| ENST00000426608.6:c.313-415_313-414del | ENSP00000411606.2:n.313-415_313-414del | |
| ENST00000540753.6:c.422-290_422-289del | ENSP00000437709.1:n.422-290_422-289del | |
| ENST00000619306.5:c.353-290_353-289del | ENSP00000483540.2:n.353-290_353-289del | |
| ENST00000643576.1:n.591-290_591-289del | ||
| ENST00000643810.1:c.170-290_170-289del | ENSP00000494717.1:n.170-290_170-289del | |
| ENST00000645132.1:n.519+2508_519+2509del | ||
| ENST00000647067.1:c.*342-290_*342-289del | ENSP00000495728.1:n.*342-290_*342-289del | |
| ENST00000223423.8:c.497-290_497-289del | ENSP00000223423.4:n.497-290_497-289del | |
| ENST00000362012.6:c.497-290_497-289del | ENSP00000354612.2:n.497-290_497-289del | |
| ENST00000373698.6:c.170-290_170-289del | ENSP00000362802.5:n.170-290_170-289del | |
| ENST00000426608.5:c.304-415_304-414del | ENSP00000411606.1:n.304-415_304-414del | |
| ENST00000540753.5:c.422-290_422-289del | ENSP00000437709.1:n.422-290_422-289del | |
| ENST00000614910.4:c.353-290_353-289del | ENSP00000484800.1:n.353-290_353-289del | |
| ENST00000619306.4:c.590-290_590-289del | ENSP00000483540.1:n.590-290_590-289del | |
| NM_000962.3:c.497-290_497-289del | NP_000953.2:n.497-290_497-289del | |
| NM_001271164.1:c.353-290_353-289del | NP_001258093.1:n.353-290_353-289del | |
| NM_001271165.1:c.170-290_170-289del | NP_001258094.1:n.170-290_170-289del | |
| NM_001271166.1:c.170-290_170-289del | NP_001258095.1:n.170-290_170-289del | |
| NM_001271367.1:c.170-290_170-289del | NP_001258296.1:n.170-290_170-289del | |
| NM_001271368.1:c.422-290_422-289del | NP_001258297.1:n.422-290_422-289del | |
| NM_080591.2:c.497-290_497-289del | NP_542158.1:n.497-290_497-289del | |
| XM_005252105.2:c.422-290_422-289del | XP_005252162.1:n.422-290_422-289del | |
| XM_011518875.1:c.422-290_422-289del | XP_011517177.1:n.422-290_422-289del | |
| XM_011518876.1:c.170-290_170-289del | XP_011517178.1:n.170-290_170-289del | |
| XM_005252105.3:c.422-290_422-289del | XP_005252162.1:n.422-290_422-289del | |
| XM_011518875.2:c.422-290_422-289del | XP_011517177.1:n.422-290_422-289del | |
| XM_011518876.2:c.170-290_170-289del | XP_011517178.1:n.170-290_170-289del | |
| XM_024447614.1:c.170-290_170-289del | XP_024303382.1:n.170-290_170-289del | |
| XM_024447615.1:c.170-290_170-289del | XP_024303383.1:n.170-290_170-289del | |
| NM_000962.4:c.497-290_497-289del MANE Select | NP_000953.2:n.497-290_497-289del | |
| NM_001271164.2:c.353-290_353-289del | NP_001258093.1:n.353-290_353-289del | |
| NM_001271165.2:c.170-290_170-289del | NP_001258094.1:n.170-290_170-289del | |
| NM_001271166.2:c.170-290_170-289del | NP_001258095.1:n.170-290_170-289del | |
| NM_001271367.2:c.170-290_170-289del | NP_001258296.1:n.170-290_170-289del | |
| NM_001271368.2:c.422-290_422-289del | NP_001258297.1:n.422-290_422-289del | |
| NM_080591.3:c.497-290_497-289del | NP_542158.1:n.497-290_497-289del |