Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942506_44942520del , CM000664.2:g.44942506_44942520del | GRCh38 |
| NC_000002.11:g.45169645_45169659del , CM000664.1:g.45169645_45169659del | GRCh37 |
| NC_000002.10:g.45023149_45023163del | NCBI36 |
| NG_016222.1:g.5609_5623del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005413.4:c.402_416del MANE Select | NP_005404.1:p.Arg135_Ala139del |
| ENST00000260653.5:c.402_416del MANE Select | ENSP00000260653.3:p.Arg135_Ala139del |
| NM_005413.3:c.402_416del | NP_005404.1:p.Arg135_Ala139del |
| ENST00000260653.4:c.402_416del | ENSP00000260653.3:p.Arg135_Ala139del |
| XM_011533042.1:c.402_416del | XP_011531344.1:p.Arg135_Ala139del |