Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854418_97854444del , CM000671.2:g.97854418_97854444del | GRCh38 |
| NC_000009.11:g.100616700_100616726del , CM000671.1:g.100616700_100616726del | GRCh37 |
| NC_000009.10:g.99656521_99656547del | NCBI36 |
| NG_011979.1:g.6164_6190del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004473.4:c.504_530del MANE Select | NP_004464.2:p.Ala169_Ala177del |
| ENST00000375123.5:c.504_530del MANE Select | ENSP00000364265.3:p.Ala169_Ala177del |
| NM_004473.3:c.504_530del | NP_004464.2:p.Ala169_Ala177del |
| ENST00000375123.4:c.504_530del | ENSP00000364265.3:p.Ala169_Ala177del |