Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854412_97854432del , CM000671.2:g.97854412_97854432del | GRCh38 |
| NC_000009.11:g.100616694_100616714del , CM000671.1:g.100616694_100616714del | GRCh37 |
| NC_000009.10:g.99656515_99656535del | NCBI36 |
| NG_011979.1:g.6158_6178del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375123.5:c.498_518del MANE Select | ENSP00000364265.3:p.Ala167_Ala173del | |
| ENST00000375123.4:c.498_518del | ENSP00000364265.3:p.Ala167_Ala173del | |
| NM_004473.3:c.498_518del | NP_004464.2:p.Ala167_Ala173del | |
| NM_004473.4:c.498_518del MANE Select | NP_004464.2:p.Ala167_Ala173del |