Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532268_129532358dup , CM000665.2:g.129532268_129532358dup | GRCh38 |
| NC_000003.11:g.129251111_129251201dup , CM000665.1:g.129251111_129251201dup | GRCh37 |
| NC_000003.10:g.130733801_130733891dup | NCBI36 |
| NG_009115.1:g.8630_8720dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.548_638dup MANE Select | ENSP00000296271.3:p.Ile214AlafsTer? | |
| ENST00000296271.3:c.548_638dup | ENSP00000296271.3:p.Ile214AlafsTer? | |
| NM_000539.3:c.548_638dup MANE Select | NP_000530.1:p.Ile214AlafsTer? |