Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446919_39446922del , CM000666.2:g.39446919_39446922del | GRCh38 |
| NC_000004.11:g.39448539_39448542del , CM000666.1:g.39448539_39448542del | GRCh37 |
| NC_000004.10:g.39124934_39124937del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257408.5:c.2193_2196del MANE Select | ENSP00000257408.4:p.Arg731SerfsTer? | |
| ENST00000257408.4:c.2193_2196del | ENSP00000257408.4:p.Arg731SerfsTer? | |
| NM_175737.3:c.2193_2196del | NP_783864.1:p.Arg731SerfsTer? | |
| XM_005262644.1:c.2166_2169del | XP_005262701.1:p.Arg722SerfsTer? | |
| NM_175737.4:c.2193_2196del MANE Select | NP_783864.1:p.Arg731SerfsTer? |