Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7042164del , CM000680.2:g.7042164del | GRCh38 |
| NC_000018.9:g.7042163del , CM000680.1:g.7042163del | GRCh37 |
| NC_000018.8:g.7032163del | NCBI36 |
| NG_034251.1:g.80652del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005559.4:c.1243del MANE Select | NP_005550.2:p.His415IlefsTer? |
| ENST00000389658.4:c.1243del MANE Select | ENSP00000374309.3:p.His415IlefsTer? |
| NM_005559.3:c.1243del | NP_005550.2:p.His415IlefsTer? |
| ENST00000389658.3:c.1243del | ENSP00000374309.3:p.His415IlefsTer? |
| ENST00000579014.5:n.2258del | |
| XM_011525655.1:c.1243del | XP_011523957.1:p.His415IlefsTer? |
| XM_011525655.2:c.1243del | XP_011523957.1:p.His415IlefsTer? |
| XM_011525657.1:c.1243del | XP_011523959.1:p.His415IlefsTer? |