Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516324_75516326delinsCAA , CM000679.2:g.75516324_75516326delinsCAA | GRCh38 |
| NC_000017.10:g.73512405_73512407delinsCAA , CM000679.1:g.73512405_73512407delinsCAA | GRCh37 |
| NC_000017.9:g.71024000_71024002delinsCAA | NCBI36 |
| NG_013041.1:g.4797_4799delinsCAA | |
| NG_033152.1:g.4258_4260delinsTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-145_-143delinsCAA | ENSP00000406559.4:n.-145_-143delinsCAA | |
| ENST00000679370.1:n.381_383delinsCAA | ||
| ENST00000434205.7:c.-145_-143delinsCAA | ENSP00000406559.3:n.-145_-143delinsCAA | |
| XM_006721821.2:c.-310_-308delinsCAA | XP_006721884.1:n.-310_-308delinsCAA |