Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516327_75516328del , CM000679.2:g.75516327_75516328del | GRCh38 |
| NC_000017.10:g.73512408_73512409del , CM000679.1:g.73512408_73512409del | GRCh37 |
| NC_000017.9:g.71024003_71024004del | NCBI36 |
| NG_013041.1:g.4800_4801del | |
| NG_033152.1:g.4258_4259del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-142_-141del | ENSP00000406559.4:n.-142_-141del | |
| ENST00000679370.1:n.384_385del | ||
| ENST00000434205.7:c.-142_-141del | ENSP00000406559.3:n.-142_-141del | |
| XM_006721821.2:c.-307_-306del | XP_006721884.1:n.-307_-306del |