Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61045809del , CM000664.2:g.61045809del | GRCh38 |
| NC_000002.11:g.61272944del , CM000664.1:g.61272944del | GRCh37 |
| NC_000002.10:g.61126448del | NCBI36 |
| NG_008665.1:g.33133del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002618.4:c.871del MANE Select | NP_002609.1:p.Ile291PhefsTer9 |
| ENST00000295030.6:c.871del MANE Select | ENSP00000295030.4:p.Ile291PhefsTer9 |
| NM_002618.3:c.871del | NP_002609.1:p.Ile291PhefsTer9 |
| ENST00000295030.5:c.871del | ENSP00000295030.4:p.Ile291PhefsTer9 |
| XM_011532904.1:c.754del | XP_011531206.1:p.Ile252PhefsTer9 |