Linked Data
gnomAD v4:
3-98585656-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585657del , CM000665.2:g.98585657del | GRCh38 |
| NC_000003.11:g.98304501del , CM000665.1:g.98304501del | GRCh37 |
| NC_000003.10:g.99787191del | NCBI36 |
| NG_015994.1:g.12955del | |
| NG_015994.2:g.12955del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.956del MANE Select | ENSP00000497326.1:p.Cys319LeufsTer7 | |
| ENST00000264193.2:c.956del | ENSP00000264193.2:p.Cys319LeufsTer7 | |
| ENST00000510489.1:n.206del | ||
| NM_000097.5:c.956del | NP_000088.3:p.Cys319LeufsTer7 | |
| XM_005247125.3:c.956del | XP_005247182.1:p.Cys319LeufsTer7 | |
| NM_000097.7:c.956del MANE Select | NP_000088.3:p.Cys319LeufsTer7 | |
| XM_005247125.4:c.956del | XP_005247182.1:p.Cys319LeufsTer7 | |
| XR_001740025.2:n.1127del | ||
| XR_001740026.1:n.1691del | ||
| XR_001740027.1:n.1231del | ||
| XR_001740028.1:n.1197del |