Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097480del , CM000663.2:g.40097480del | GRCh38 |
| NC_000001.10:g.40563152del , CM000663.1:g.40563152del | GRCh37 |
| NC_000001.9:g.40335739del | NCBI36 |
| NG_009192.1:g.4991del , LRG_690:g.4991del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-242del | ENSP00000394863.3:n.-242del |