Linked Data
ClinVar Variation Id:
517080
dbSNP Id:
rs79118993
ExAC:
8:96053782 GCT / G
gnomAD v2:
8-96053782-GCT-G
gnomAD v3:
8-95041554-GCT-G
gnomAD v4:
8-95041554-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95041557_95041558del , CM000670.2:g.95041557_95041558del | GRCh38 |
| NC_000008.10:g.96053785_96053786del , CM000670.1:g.96053785_96053786del | GRCh37 |
| NC_000008.9:g.96122961_96122962del | NCBI36 |
| NG_016647.1:g.21565_21566del | |
| NG_016647.2:g.151287_151288del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519804.2:c.*215-13_*215-12del | ENSP00000430230.2:n.*215-13_*215-12del | |
| ENST00000697355.1:c.*191-13_*191-12del | ENSP00000513277.1:n.*191-13_*191-12del | |
| ENST00000697364.1:c.145-13_145-12del | ENSP00000513278.1:n.145-13_145-12del | |
| ENST00000396124.9:c.421-13_421-12del MANE Select | ENSP00000379430.4:n.421-13_421-12del | |
| ENST00000396111.6:c.145-13_145-12del | ENSP00000379417.1:n.145-13_145-12del | |
| ENST00000396113.5:c.145-13_145-12del | ENSP00000379419.1:n.145-13_145-12del | |
| ENST00000396124.8:c.421-13_421-12del | ENSP00000379430.4:n.421-13_421-12del | |
| ENST00000454358.6:c.366-13_366-12del | ||
| ENST00000517976.5:c.606-13_606-12del | ENSP00000430099.1:n.606-13_606-12del | |
| ENST00000518258.5:c.*396-13_*396-12del | ENSP00000428788.1:n.*396-13_*396-12del | |
| ENST00000518608.5:c.262-13_262-12del | ||
| ENST00000519136.5:c.88-13_88-12del | ENSP00000429585.1:n.88-13_88-12del | |
| ENST00000519804.1:c.88-13_88-12del | ENSP00000430230.1:n.88-13_88-12del | |
| ENST00000520632.5:c.525-13_525-12del | ENSP00000428666.1:n.525-13_525-12del | |
| ENST00000520757.1:c.486-13_486-12del | ||
| ENST00000523337.5:c.*174-13_*174-12del | ENSP00000429038.1:n.*174-13_*174-12del | |
| ENST00000523378.5:c.145-13_145-12del | ENSP00000428034.1:n.145-13_145-12del | |
| NM_152416.3:c.421-13_421-12del | NP_689629.2:n.421-13_421-12del | |
| XM_005250789.1:c.145-13_145-12del | XP_005250846.1:n.145-13_145-12del | |
| XM_005250790.1:c.88-13_88-12del | XP_005250847.1:n.88-13_88-12del | |
| XM_005250791.1:c.-36-13_-36-12del | XP_005250848.1:n.-36-13_-36-12del | |
| XM_005250792.1:c.-36-13_-36-12del | XP_005250849.1:n.-36-13_-36-12del | |
| XM_005250793.1:c.-36-13_-36-12del | XP_005250850.1:n.-36-13_-36-12del | |
| XM_011516833.1:c.265-13_265-12del | XP_011515135.1:n.265-13_265-12del | |
| XM_011516834.1:c.265-13_265-12del | XP_011515136.1:n.265-13_265-12del | |
| XM_011516835.1:c.265-13_265-12del | XP_011515137.1:n.265-13_265-12del | |
| XM_011516836.1:c.265-13_265-12del | XP_011515138.1:n.265-13_265-12del | |
| XM_011516837.1:c.265-13_265-12del | XP_011515139.1:n.265-13_265-12del | |
| XM_011516838.1:c.265-13_265-12del | XP_011515140.1:n.265-13_265-12del | |
| XM_011516839.1:c.265-13_265-12del | XP_011515141.1:n.265-13_265-12del | |
| XM_011516840.1:c.265-13_265-12del | XP_011515142.1:n.265-13_265-12del | |
| XM_011516841.1:c.265-13_265-12del | XP_011515143.1:n.265-13_265-12del | |
| XM_011516842.1:c.265-13_265-12del | XP_011515144.1:n.265-13_265-12del | |
| XM_011516843.1:c.145-13_145-12del | XP_011515145.1:n.145-13_145-12del | |
| XM_011516844.1:c.88-13_88-12del | XP_011515146.1:n.88-13_88-12del | |
| NM_001330582.1:c.145-13_145-12del | NP_001317511.1:n.145-13_145-12del | |
| NM_001354514.1:c.145-13_145-12del | NP_001341443.1:n.145-13_145-12del | |
| NM_001354515.1:c.145-13_145-12del | NP_001341444.1:n.145-13_145-12del | |
| NM_001354516.1:c.265-13_265-12del | NP_001341445.1:n.265-13_265-12del | |
| NM_001354517.1:c.88-13_88-12del | NP_001341446.1:n.88-13_88-12del | |
| NM_001354518.1:c.88-13_88-12del | NP_001341447.1:n.88-13_88-12del | |
| NM_001354519.1:c.88-13_88-12del | NP_001341448.1:n.88-13_88-12del | |
| NM_001354521.1:c.145-13_145-12del | NP_001341450.1:n.145-13_145-12del | |
| NM_001354522.1:c.-36-13_-36-12del | NP_001341451.1:n.-36-13_-36-12del | |
| NM_001354524.1:c.-36-13_-36-12del | NP_001341453.1:n.-36-13_-36-12del | |
| NM_001354525.1:c.-36-13_-36-12del | NP_001341454.1:n.-36-13_-36-12del | |
| NM_001354527.1:c.-36-13_-36-12del | NP_001341456.1:n.-36-13_-36-12del | |
| NM_001354528.1:c.-36-13_-36-12del | NP_001341457.1:n.-36-13_-36-12del | |
| NM_001354529.1:c.-36-13_-36-12del | NP_001341458.1:n.-36-13_-36-12del | |
| NM_001354530.1:c.-36-13_-36-12del | NP_001341459.1:n.-36-13_-36-12del | |
| NM_001354531.1:c.-36-13_-36-12del | NP_001341460.1:n.-36-13_-36-12del | |
| NM_001354532.1:c.-36-13_-36-12del | NP_001341461.1:n.-36-13_-36-12del | |
| NM_001354533.1:c.-36-13_-36-12del | NP_001341462.1:n.-36-13_-36-12del | |
| NM_001354534.1:c.88-13_88-12del | NP_001341463.1:n.88-13_88-12del | |
| NR_148910.1:n.574-13_574-12del | ||
| NR_148911.1:n.455-13_455-12del | ||
| NR_148912.1:n.459-13_459-12del | ||
| NR_148913.1:n.455-13_455-12del | ||
| NR_148914.1:n.652-13_652-12del | ||
| NR_148915.1:n.579-13_579-12del | ||
| XM_005250792.2:c.-36-13_-36-12del | XP_005250849.1:n.-36-13_-36-12del | |
| XM_005250793.3:c.-36-13_-36-12del | XP_005250850.1:n.-36-13_-36-12del | |
| XM_011516833.2:c.265-13_265-12del | XP_011515135.1:n.265-13_265-12del | |
| XM_011516834.2:c.265-13_265-12del | XP_011515136.1:n.265-13_265-12del | |
| XM_011516835.2:c.265-13_265-12del | XP_011515137.1:n.265-13_265-12del | |
| XM_011516836.2:c.265-13_265-12del | XP_011515138.1:n.265-13_265-12del | |
| XM_011516837.2:c.265-13_265-12del | XP_011515139.1:n.265-13_265-12del | |
| XM_011516838.2:c.265-13_265-12del | XP_011515140.1:n.265-13_265-12del | |
| XM_011516839.2:c.265-13_265-12del | XP_011515141.1:n.265-13_265-12del | |
| XM_011516840.2:c.265-13_265-12del | XP_011515142.1:n.265-13_265-12del | |
| XM_011516841.2:c.265-13_265-12del | XP_011515143.1:n.265-13_265-12del | |
| XM_011516842.2:c.265-13_265-12del | XP_011515144.1:n.265-13_265-12del | |
| XM_017013027.2:c.265-13_265-12del | XP_016868516.1:n.265-13_265-12del | |
| XM_017013028.1:c.265-13_265-12del | XP_016868517.1:n.265-13_265-12del | |
| XM_017013029.1:c.265-13_265-12del | XP_016868518.1:n.265-13_265-12del | |
| XM_017013033.2:c.145-13_145-12del | XP_016868522.1:n.145-13_145-12del | |
| XM_017013034.1:c.88-13_88-12del | XP_016868523.1:n.88-13_88-12del | |
| XM_024447062.1:c.88-13_88-12del | XP_024302830.1:n.88-13_88-12del | |
| NM_152416.4:c.421-13_421-12del MANE Select | NP_689629.2:n.421-13_421-12del | |
| NR_148913.2:n.441-13_441-12del | ||
| NR_148914.2:n.638-13_638-12del | ||
| NM_001330582.2:c.145-13_145-12del | NP_001317511.1:n.145-13_145-12del | |
| NM_001354514.2:c.145-13_145-12del | NP_001341443.1:n.145-13_145-12del | |
| NM_001354515.2:c.145-13_145-12del | NP_001341444.1:n.145-13_145-12del | |
| NM_001354516.2:c.265-13_265-12del | NP_001341445.1:n.265-13_265-12del | |
| NM_001354517.2:c.88-13_88-12del | NP_001341446.1:n.88-13_88-12del | |
| NM_001354518.2:c.88-13_88-12del | NP_001341447.1:n.88-13_88-12del | |
| NM_001354519.2:c.88-13_88-12del | NP_001341448.1:n.88-13_88-12del | |
| NM_001354521.2:c.145-13_145-12del | NP_001341450.1:n.145-13_145-12del | |
| NM_001354522.2:c.-36-13_-36-12del | NP_001341451.1:n.-36-13_-36-12del | |
| NM_001354524.2:c.-36-13_-36-12del | NP_001341453.1:n.-36-13_-36-12del | |
| NM_001354525.2:c.-36-13_-36-12del | NP_001341454.1:n.-36-13_-36-12del | |
| NM_001354527.2:c.-36-13_-36-12del | NP_001341456.1:n.-36-13_-36-12del | |
| NM_001354528.2:c.-36-13_-36-12del | NP_001341457.1:n.-36-13_-36-12del | |
| NM_001354529.2:c.-36-13_-36-12del | NP_001341458.1:n.-36-13_-36-12del | |
| NM_001354530.2:c.-36-13_-36-12del | NP_001341459.1:n.-36-13_-36-12del | |
| NM_001354531.2:c.-36-13_-36-12del | NP_001341460.1:n.-36-13_-36-12del | |
| NM_001354532.2:c.-36-13_-36-12del | NP_001341461.1:n.-36-13_-36-12del | |
| NM_001354533.2:c.-36-13_-36-12del | NP_001341462.1:n.-36-13_-36-12del | |
| NM_001354534.2:c.88-13_88-12del | NP_001341463.1:n.88-13_88-12del | |
| NR_148910.2:n.560-13_560-12del | ||
| NR_148911.2:n.441-13_441-12del | ||
| NR_148912.2:n.445-13_445-12del | ||
| NR_148915.2:n.565-13_565-12del |