Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758289_64758290del , CM000673.2:g.64758289_64758290del | GRCh38 |
| NC_000011.9:g.64525761_64525762del , CM000673.1:g.64525761_64525762del | GRCh37 |
| NC_000011.8:g.64282337_64282338del | NCBI36 |
| NG_013018.1:g.7427_7428del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.485_486del MANE Select | ENSP00000164139.3:p.Tyr162Ter | |
| ENST00000164139.3:c.485_486del | ENSP00000164139.3:p.Tyr162Ter | |
| ENST00000377432.7:c.244-23_244-22del | ENSP00000366650.3:n.244-23_244-22del | |
| NM_001164716.1:c.244-23_244-22del | NP_001158188.1:n.244-23_244-22del | |
| NM_005609.2:c.485_486del | NP_005600.1:p.Tyr162Ter | |
| NM_005609.3:c.485_486del | NP_005600.1:p.Tyr162Ter | |
| NM_005609.4:c.485_486del MANE Select | NP_005600.1:p.Tyr162Ter |