Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99982789_99982792del , CM000675.2:g.99982789_99982792del | GRCh38 |
| NC_000013.10:g.100635043_100635046del , CM000675.1:g.100635043_100635046del | GRCh37 |
| NC_000013.9:g.99433044_99433047del | NCBI36 |
| NG_007085.2:g.5725_5728del | |
| NG_007085.3:g.6034_6037del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376335.8:c.725_728del MANE Select | ENSP00000365514.3:p.Ala242ValfsTer14 | |
| ENST00000376335.7:c.725_728del | ENSP00000365514.3:p.Ala242ValfsTer14 | |
| ENST00000620342.1:c.722_725del | ENSP00000481510.1:p.Ala241ValfsTer14 | |
| NM_007129.3:c.725_728del | NP_009060.2:p.Ala242ValfsTer14 | |
| XM_011521110.1:c.725_728del | XP_011519412.1:p.Ala242ValfsTer14 | |
| NM_007129.4:c.725_728del | NP_009060.2:p.Ala242ValfsTer14 | |
| NM_007129.5:c.725_728del MANE Select | NP_009060.2:p.Ala242ValfsTer14 |