Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097332del , CM000663.2:g.40097332del | GRCh38 |
| NC_000001.10:g.40563004del , CM000663.1:g.40563004del | GRCh37 |
| NC_000001.9:g.40335591del | NCBI36 |
| NG_009192.1:g.5139del , LRG_690:g.5139del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-94del | ENSP00000394863.3:n.-94del | |
| NM_000310.3:c.-94del , LRG_690t1:c.-94del | NP_000301.1:n.-94del | |
| NM_001142604.1:c.-94del | NP_001136076.1:n.-94del | |
| NM_001363695.1:c.-94del | NP_001350624.1:n.-94del |