Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133527118_133527121del , CM000672.2:g.133527118_133527121del | GRCh38 |
| NC_000010.10:g.135340622_135340625del , CM000672.1:g.135340622_135340625del | GRCh37 |
| NC_000010.9:g.135190612_135190615del | NCBI36 |
| NG_008383.1:g.4756_4759del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463117.6:c.-39-239_-39-236del | ENSP00000440689.1:n.-39-239_-39-236del | |
| ENST00000541261.1:c.-39-239_-39-236del | ENSP00000437799.1:n.-39-239_-39-236del |