Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122050542_122050544del , CM000665.2:g.122050542_122050544del | GRCh38 |
| NC_000003.11:g.121769389_121769391del , CM000665.1:g.121769389_121769391del | GRCh37 |
| NC_000003.10:g.123252079_123252081del | NCBI36 |
| NG_029928.1:g.181_183del | |
| NG_031870.2:g.15012_15014del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011512739.1:c.-348+9877_-348+9879del | XP_011511041.1:n.-348+9877_-348+9879del | |
| XM_011512739.2:c.-348+9877_-348+9879del | XP_011511041.1:n.-348+9877_-348+9879del |