Linked Data
gnomAD v4:
1-159886646-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159886649del , CM000663.2:g.159886649del | GRCh38 |
| NC_000001.10:g.159856439del , CM000663.1:g.159856439del | GRCh37 |
| NC_000001.9:g.158123063del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368099.9:c.631del MANE Select | ENSP00000357079.4:p.Ile211SerfsTer21 | |
| ENST00000368099.8:c.631del | ENSP00000357079.4:p.Ile211SerfsTer21 | |
| ENST00000426543.6:c.376del | ENSP00000403044.2:p.Ile126SerfsTer21 | |
| ENST00000476696.5:c.631del | ENSP00000483972.1:p.Ile211SerfsTer21 | |
| ENST00000479940.2:c.376del | ENSP00000478944.1:p.Ile126SerfsTer? | |
| NM_012337.2:c.631del | NP_036469.2:p.Ile211SerfsTer21 | |
| NM_012337.3:c.631del MANE Select | NP_036469.2:p.Ile211SerfsTer21 |