Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80675065_80675066del , CM000667.2:g.80675065_80675066del | GRCh38 |
| NC_000005.9:g.79970884_79970885del , CM000667.1:g.79970884_79970885del | GRCh37 |
| NC_000005.8:g.80006640_80006641del | NCBI36 |
| NG_016607.1:g.25591_25592del | |
| NG_016607.2:g.25591_25592del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.1110_1111del MANE Select | ENSP00000265081.6:p.Ile371LeufsTer2 | |
| ENST00000658259.1:c.942_943del | ENSP00000499617.1:p.Ile315LeufsTer2 | |
| ENST00000667069.1:c.1110_1111del | ENSP00000499502.1:p.Ile371LeufsTer2 | |
| ENST00000670357.1:c.1110_1111del | ENSP00000499791.1:p.Ile371LeufsTer2 | |
| ENST00000265081.6:c.1110_1111del | ENSP00000265081.6:p.Ile371LeufsTer2 | |
| NM_002439.4:c.1110_1111del | NP_002430.3:p.Ile371LeufsTer2 | |
| NM_002439.5:c.1110_1111del MANE Select | NP_002430.3:p.Ile371LeufsTer2 |