Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373360del , CM000672.2:g.133373360del | GRCh38 |
| NC_000010.10:g.135186864del , CM000672.1:g.135186864del | GRCh37 |
| NC_000010.9:g.135036854del | NCBI36 |
| NG_042077.1:g.5048del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.3:c.-24del | ENSP00000357535.3:n.-24del | |
| NM_004092.3:c.-24del | NP_004083.3:n.-24del | |
| XR_002956965.1:n.40del |