Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445656_15445660del , CM000663.2:g.15445656_15445660del | GRCh38 |
| NC_000001.10:g.15772151_15772155del , CM000663.1:g.15772151_15772155del | GRCh37 |
| NC_000001.9:g.15644738_15644742del | NCBI36 |
| NG_009253.1:g.12214_12218del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.699_703del MANE Select | ENSP00000365116.4:p.Ile234GlnfsTer? | |
| ENST00000375943.6:c.*153_*157del | ENSP00000365110.2:n.*153_*157del | |
| ENST00000375949.4:c.699_703del | ENSP00000365116.4:p.Ile234GlnfsTer? | |
| ENST00000483406.1:n.463_467del | ||
| NM_007272.2:c.699_703del | NP_009203.2:p.Ile234GlnfsTer? | |
| XM_011540550.1:c.553_557del | XP_011538852.1:p.His185SerfsTer16 | |
| NM_007272.3:c.699_703del MANE Select | NP_009203.2:p.Ile234GlnfsTer? |