Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68838746_68838754del , CM000685.2:g.68838746_68838754del | GRCh38 |
| NC_000023.10:g.68058589_68058597del , CM000685.1:g.68058589_68058597del | GRCh37 |
| NC_000023.9:g.67975314_67975322del | NCBI36 |
| NG_008887.1:g.14750_14758del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000204961.5:c.258_266del MANE Select | ENSP00000204961.4:p.Ala87_Cys89del | |
| ENST00000204961.4:c.258_266del | ENSP00000204961.4:p.Ala87_Cys89del | |
| NM_004429.4:c.258_266del | NP_004420.1:p.Ala87_Cys89del | |
| NM_004429.5:c.258_266del MANE Select | NP_004420.1:p.Ala87_Cys89del |