Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323834_73323835del , CM000677.2:g.73323834_73323835del | GRCh38 |
| NC_000015.9:g.73616175_73616176del , CM000677.1:g.73616175_73616176del | GRCh37 |
| NC_000015.8:g.71403228_71403229del | NCBI36 |
| NG_009063.1:g.50431_50432del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.2259_2260del MANE Select | ENSP00000261917.3:p.His754LeufsTer? | |
| ENST00000261917.3:c.2259_2260del | ENSP00000261917.3:p.His754LeufsTer? | |
| NM_005477.2:c.2259_2260del | NP_005468.1:p.His754LeufsTer? | |
| XM_011521148.1:c.1041_1042del | XP_011519450.1:p.His348LeufsTer? | |
| XM_011521148.2:c.1041_1042del | XP_011519450.1:p.His348LeufsTer? | |
| NM_005477.3:c.2259_2260del MANE Select | NP_005468.1:p.His754LeufsTer? |