Linked Data
ClinVar Variation Id:
2960959
ClinVar RCV Id:
RCV003819670
dbSNP Id:
rs1157483531
gnomAD v2:
2-74166163-TGTG-T
gnomAD v4:
2-73939036-TGTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73939041_73939043del , CM000664.2:g.73939041_73939043del | GRCh38 |
| NC_000002.11:g.74166168_74166170del , CM000664.1:g.74166168_74166170del | GRCh37 |
| NC_000002.10:g.74019676_74019678del | NCBI36 |
| NG_008044.1:g.17216_17218del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264093.9:c.255+19_255+21del MANE Select | ENSP00000264093.4:n.255+19_255+21del | |
| ENST00000264093.8:c.255+19_255+21del | ENSP00000264093.4:n.255+19_255+21del | |
| ENST00000348222.3:c.255+19_255+21del | ENSP00000306964.3:n.255+19_255+21del | |
| ENST00000418996.5:c.143-7678_143-7676del | ENSP00000408209.1:n.143-7678_143-7676del | |
| ENST00000462551.1:n.161-7678_161-7676del | ||
| ENST00000462685.1:n.242+6358_242+6360del | ||
| ENST00000489796.5:n.272+19_272+21del | ||
| ENST00000493055.1:n.258+19_258+21del | ||
| ENST00000629438.2:c.143-7678_143-7676del | ENSP00000487122.1:n.143-7678_143-7676del | |
| NM_080916.2:c.255+19_255+21del | NP_550438.1:n.255+19_255+21del | |
| NM_080918.2:c.255+19_255+21del | NP_550440.1:n.255+19_255+21del | |
| XM_005264173.2:c.-36-7678_-36-7676del | XP_005264230.1:n.-36-7678_-36-7676del | |
| XM_005264174.1:c.-37+6358_-37+6360del | XP_005264231.1:n.-37+6358_-37+6360del | |
| XM_011532647.1:c.255+19_255+21del | XP_011530949.1:n.255+19_255+21del | |
| XM_011532648.1:c.-37+6358_-37+6360del | XP_011530950.1:n.-37+6358_-37+6360del | |
| XR_244926.2:n.336+19_336+21del | ||
| NM_001318859.1:c.255+19_255+21del | NP_001305788.1:n.255+19_255+21del | |
| NM_001318860.1:c.-36-7678_-36-7676del | NP_001305789.1:n.-36-7678_-36-7676del | |
| NM_001318861.1:c.-37+6358_-37+6360del | NP_001305790.1:n.-37+6358_-37+6360del | |
| NM_001318862.1:c.-37+6358_-37+6360del | NP_001305791.1:n.-37+6358_-37+6360del | |
| NM_001318863.1:c.-36-7678_-36-7676del | NP_001305792.1:n.-36-7678_-36-7676del | |
| NR_134893.1:n.228-7678_228-7676del | ||
| NR_134894.1:n.228-7678_228-7676del | ||
| NR_134895.1:n.227+11989_227+11991del | ||
| NR_134896.1:n.228-7678_228-7676del | ||
| NR_134897.1:n.313+6358_313+6360del | ||
| NR_134898.1:n.228-7678_228-7676del | ||
| XM_011532647.2:c.255+19_255+21del | XP_011530949.1:n.255+19_255+21del | |
| XM_024452739.1:c.-37+19_-37+21del | XP_024308507.1:n.-37+19_-37+21del | |
| XR_001738656.1:n.339+19_339+21del | ||
| XR_244926.3:n.338+19_338+21del | ||
| NM_080916.3:c.255+19_255+21del MANE Select | NP_550438.1:n.255+19_255+21del | |
| NM_001318859.2:c.255+19_255+21del | NP_001305788.1:n.255+19_255+21del | |
| NM_001318860.2:c.-36-7678_-36-7676del | NP_001305789.1:n.-36-7678_-36-7676del | |
| NM_001318861.2:c.-37+6358_-37+6360del | NP_001305790.1:n.-37+6358_-37+6360del | |
| NM_001318862.2:c.-37+6358_-37+6360del | NP_001305791.1:n.-37+6358_-37+6360del | |
| NM_001318863.2:c.-36-7678_-36-7676del | NP_001305792.1:n.-36-7678_-36-7676del | |
| NM_080918.3:c.255+19_255+21del | NP_550440.1:n.255+19_255+21del | |
| NR_134893.2:n.174-7678_174-7676del | ||
| NR_134894.2:n.174-7678_174-7676del | ||
| NR_134895.2:n.173+11989_173+11991del | ||
| NR_134896.2:n.174-7678_174-7676del | ||
| NR_134897.2:n.259+6358_259+6360del | ||
| NR_134898.2:n.174-7678_174-7676del |