Linked Data
ClinVar Variation Id:
1243935
ClinVar RCV Id:
RCV001648201
dbSNP Id:
rs58582279
gnomAD v2:
7-83021799-TAAA-T
gnomAD v3:
7-83392483-TAAA-T
gnomAD v4:
7-83392483-TAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83392499_83392501del , CM000669.2:g.83392499_83392501del | GRCh38 |
| NC_000007.13:g.83021815_83021817del , CM000669.1:g.83021815_83021817del | GRCh37 |
| NC_000007.12:g.82859751_82859753del | NCBI36 |
| NG_021242.1:g.261678_261680del | |
| NG_021242.2:g.261678_261680del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.1487+69_1487+71del | ENSP00000405052.1:n.1487+69_1487+71del | |
| ENST00000642232.1:c.1667+69_1667+71del | ENSP00000494064.1:n.1667+69_1667+71del | |
| ENST00000643230.2:c.1667+69_1667+71del MANE Select | ENSP00000496491.1:n.1667+69_1667+71del | |
| ENST00000643441.1:n.1652+69_1652+71del | ||
| ENST00000307792.7:c.1667+69_1667+71del | ENSP00000303212.3:n.1667+69_1667+71del | |
| ENST00000427262.5:c.1487+69_1487+71del | ENSP00000405052.1:n.1487+69_1487+71del | |
| NM_001178129.1:c.1487+69_1487+71del | NP_001171600.1:n.1487+69_1487+71del | |
| NM_012431.2:c.1667+69_1667+71del | NP_036563.1:n.1667+69_1667+71del | |
| XM_011516715.1:c.1667+69_1667+71del | XP_011515017.1:n.1667+69_1667+71del | |
| NM_012431.3:c.1667+69_1667+71del MANE Select | NP_036563.1:n.1667+69_1667+71del | |
| NM_001178129.2:c.1487+69_1487+71del | NP_001171600.1:n.1487+69_1487+71del |