Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097491_40097493del , CM000663.2:g.40097491_40097493del | GRCh38 |
| NC_000001.10:g.40563163_40563165del , CM000663.1:g.40563163_40563165del | GRCh37 |
| NC_000001.9:g.40335750_40335752del | NCBI36 |
| NG_009192.1:g.4980_4982del , LRG_690:g.4980_4982del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-253_-251del | ENSP00000394863.3:n.-253_-251del |