Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62065520del , CM000682.2:g.62065520del | GRCh38 |
| NC_000020.10:g.60640576del , CM000682.1:g.60640576del | GRCh37 |
| NC_000020.9:g.60073971del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003185.4:c.296del MANE Select | NP_003176.2:p.Gly99AlafsTer28 |
| ENST00000252996.9:c.296del MANE Select | ENSP00000252996.3:p.Gly99AlafsTer28 |
| NM_003185.3:c.296del | NP_003176.2:p.Gly99AlafsTer28 |
| ENST00000252996.8:c.296del | ENSP00000252996.3:p.Gly99AlafsTer28 |