Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095691_27095696del , CM000669.2:g.27095691_27095696del | GRCh38 |
| NC_000007.13:g.27135310_27135315del , CM000669.1:g.27135310_27135315del | GRCh37 |
| NC_000007.12:g.27101835_27101840del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.218_223del MANE Select | ENSP00000494260.2:p.Arg73_His74del | |
| ENST00000343060.4:c.218_223del | ENSP00000343246.4:p.Arg73_His74del | |
| ENST00000355633.5:c.218_223del | ENSP00000347851.5:p.Arg73_His74del | |
| NM_005522.5:c.218_223del MANE Select | NP_005513.2:p.Arg73_His74del | |
| NM_153620.3:c.218_223del | NP_705873.3:p.Arg73_His74del |