Linked Data
gnomAD v4:
1-100539670-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539672del , CM000663.2:g.100539672del | GRCh38 |
| NC_000001.10:g.101005228del , CM000663.1:g.101005228del | GRCh37 |
| NC_000001.9:g.100777816del | NCBI36 |
| NG_053134.1:g.6501del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.706del MANE Select | ENSP00000314223.4:p.Gln236SerfsTer? | |
| ENST00000315033.4:c.706del | ENSP00000314223.4:p.Gln236SerfsTer? | |
| NM_022049.2:c.706del | NP_071332.2:p.Gln236SerfsTer? | |
| NM_022049.3:c.706del MANE Select | NP_071332.2:p.Gln236SerfsTer? |