Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854406_97854426del , CM000671.2:g.97854406_97854426del | GRCh38 |
| NC_000009.11:g.100616688_100616708del , CM000671.1:g.100616688_100616708del | GRCh37 |
| NC_000009.10:g.99656509_99656529del | NCBI36 |
| NG_011979.1:g.6152_6172del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375123.5:c.492_512del MANE Select | ENSP00000364265.3:p.Ala165_Ala171del | |
| ENST00000375123.4:c.492_512del | ENSP00000364265.3:p.Ala165_Ala171del | |
| NM_004473.3:c.492_512del | NP_004464.2:p.Ala165_Ala171del | |
| NM_004473.4:c.492_512del MANE Select | NP_004464.2:p.Ala165_Ala171del |