Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013631_25013664del , CM000685.2:g.25013631_25013664del | GRCh38 |
| NC_000023.10:g.25031748_25031781del , CM000685.1:g.25031748_25031781del | GRCh37 |
| NC_000023.9:g.24941669_24941702del | NCBI36 |
| NG_008281.1:g.7289_7322del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139058.3:c.335_368del MANE Select | NP_620689.1:p.Ala112GlyfsTer? |
| ENST00000379044.5:c.335_368del MANE Select | ENSP00000368332.4:p.Ala112GlyfsTer? |
| NM_139058.2:c.335_368del | NP_620689.1:p.Ala112GlyfsTer? |
| ENST00000379044.4:c.335_368del | ENSP00000368332.4:p.Ala112GlyfsTer? |