Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028875_135028877del , CM000667.2:g.135028875_135028877del | GRCh38 |
| NC_000005.9:g.134364565_134364567del , CM000667.1:g.134364565_134364567del | GRCh37 |
| NC_000005.8:g.134392464_134392466del | NCBI36 |
| NG_012114.1:g.10398_10400del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.847_849del MANE Select | ENSP00000265340.6:p.Ala283del | |
| ENST00000265340.11:c.847_849del | ENSP00000265340.6:p.Ala283del | |
| ENST00000506438.5:c.847_849del | ENSP00000427542.1:p.Ala283del | |
| NM_002653.4:c.847_849del | NP_002644.4:p.Ala283del | |
| NM_002653.5:c.847_849del MANE Select | NP_002644.4:p.Ala283del |