Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965826del , CM000670.2:g.37965826del | GRCh38 |
| NC_000008.10:g.37823344del , CM000670.1:g.37823344del | GRCh37 |
| NC_000008.9:g.37942501del | NCBI36 |
| NG_011936.1:g.5842del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.645del MANE Select | NP_000016.1:p.Pro216LeufsTer4 |
| ENST00000345060.5:c.645del MANE Select | ENSP00000343782.3:p.Pro216LeufsTer4 |
| NM_000025.2:c.645del | NP_000016.1:p.Pro216LeufsTer4 |
| ENST00000345060.4:c.645del | ENSP00000343782.3:p.Pro216LeufsTer4 |
| ENST00000520341.2:n.773del | |
| ENST00000614635.1:c.645del | ENSP00000480325.1:p.Pro216LeufsTer4 |
| ENST00000647937.1:c.129del | ENSP00000497740.1:p.Pro44LeufsTer4 |