Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354258_40354261del , CM000666.2:g.40354258_40354261del | GRCh38 |
| NC_000004.11:g.40356275_40356278del , CM000666.1:g.40356275_40356278del | GRCh37 |
| NC_000004.10:g.40051032_40051035del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1178_1181del MANE Select | ENSP00000312663.2:p.Lys393ArgfsTer3 | |
| ENST00000310169.2:c.1178_1181del | ENSP00000312663.2:p.Lys393ArgfsTer3 | |
| NM_017581.3:c.1178_1181del | NP_060051.2:p.Lys393ArgfsTer3 | |
| NM_017581.4:c.1178_1181del MANE Select | NP_060051.2:p.Lys393ArgfsTer3 |