Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87610944_87610947del , CM000666.2:g.87610944_87610947del | GRCh38 |
| NC_000004.11:g.88532096_88532099del , CM000666.1:g.88532096_88532099del | GRCh37 |
| NC_000004.10:g.88751120_88751123del | NCBI36 |
| NG_011595.1:g.7416_7419del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.36_39del MANE Select | ENSP00000498766.1:p.Ala13GlyfsTer19 | |
| ENST00000282478.7:c.36_39del | ENSP00000282478.7:p.Ala13GlyfsTer19 | |
| ENST00000399271.5:c.36_39del | ENSP00000382213.1:p.Ala13GlyfsTer19 | |
| NM_014208.3:c.36_39del MANE Select | NP_055023.2:p.Ala13GlyfsTer19 |