Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133527123_133527125del , CM000672.2:g.133527123_133527125del | GRCh38 |
| NC_000010.10:g.135340627_135340629del , CM000672.1:g.135340627_135340629del | GRCh37 |
| NC_000010.9:g.135190617_135190619del | NCBI36 |
| NG_008383.1:g.4761_4763del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463117.6:c.-39-234_-39-232del | ENSP00000440689.1:n.-39-234_-39-232del | |
| ENST00000541261.1:c.-39-234_-39-232del | ENSP00000437799.1:n.-39-234_-39-232del |