Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854418_97854441del , CM000671.2:g.97854418_97854441del | GRCh38 |
| NC_000009.11:g.100616700_100616723del , CM000671.1:g.100616700_100616723del | GRCh37 |
| NC_000009.10:g.99656521_99656544del | NCBI36 |
| NG_011979.1:g.6164_6187del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375123.5:c.504_527del MANE Select | ENSP00000364265.3:p.Ala169_Ala176del | |
| ENST00000375123.4:c.504_527del | ENSP00000364265.3:p.Ala169_Ala176del | |
| NM_004473.3:c.504_527del | NP_004464.2:p.Ala169_Ala176del | |
| NM_004473.4:c.504_527del MANE Select | NP_004464.2:p.Ala169_Ala176del |