Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010582_21010583del , CM000664.2:g.21010582_21010583del | GRCh38 |
| NC_000002.11:g.21233454_21233455del , CM000664.1:g.21233454_21233455del | GRCh37 |
| NC_000002.10:g.21086959_21086960del | NCBI36 |
| NG_011793.1:g.38492_38493del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6286_6287del MANE Select | ENSP00000233242.1:p.Gln2096GlufsTer9 | |
| ENST00000616098.4:c.6286_6287del | ENSP00000477990.1:p.Gln2096GlufsTer9 | |
| NM_000384.2:c.6286_6287del | NP_000375.2:p.Gln2096GlufsTer9 | |
| XM_011532809.1:c.5869+151_5869+152del | XP_011531111.1:n.5869+151_5869+152del | |
| NM_000384.3:c.6286_6287del MANE Select | NP_000375.3:p.Gln2096GlufsTer9 |