Linked Data
gnomAD v4:
19-18787676-GAGATCAGGTCGAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787679_18787692del , CM000681.2:g.18787679_18787692del | GRCh38 |
| NC_000019.9:g.18898488_18898501del , CM000681.1:g.18898488_18898501del | GRCh37 |
| NC_000019.8:g.18759488_18759501del | NCBI36 |
| NG_007070.1:g.8616_8629del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.976-40_976-27del MANE Select | ENSP00000222271.2:n.976-40_976-27del | |
| ENST00000222271.6:c.976-40_976-27del | ENSP00000222271.2:n.976-40_976-27del | |
| ENST00000425807.1:c.817-40_817-27del | ENSP00000403792.1:n.817-40_817-27del | |
| ENST00000542601.6:c.877-40_877-27del | ENSP00000439156.2:n.877-40_877-27del | |
| NM_000095.2:c.976-40_976-27del | NP_000086.2:n.976-40_976-27del | |
| NM_000095.3:c.976-40_976-27del MANE Select | NP_000086.2:n.976-40_976-27del |