Linked Data
gnomAD v4:
19-18783124-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18783128del , CM000681.2:g.18783128del | GRCh38 |
| NC_000019.9:g.18893938del , CM000681.1:g.18893938del | GRCh37 |
| NC_000019.8:g.18754938del | NCBI36 |
| NG_007070.1:g.13180del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.2156del MANE Select | ENSP00000222271.2:p.Gly719ValfsTer? | |
| ENST00000222271.6:c.2156del | ENSP00000222271.2:p.Gly719ValfsTer? | |
| ENST00000425807.1:c.1997del | ENSP00000403792.1:p.Gly666ValfsTer? | |
| ENST00000542601.6:c.2057del | ENSP00000439156.2:p.Gly686ValfsTer? | |
| NM_000095.2:c.2156del | NP_000086.2:p.Gly719ValfsTer? | |
| NM_000095.3:c.2156del MANE Select | NP_000086.2:p.Gly719ValfsTer? |