Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.1234312_1234314del , CM000669.2:g.1234312_1234314del | GRCh38 |
| NC_000007.13:g.1273948_1273950del , CM000669.1:g.1273948_1273950del | GRCh37 |
| NC_000007.12:g.1240474_1240476del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316333.9:c.450+617_450+619del MANE Select | ENSP00000314480.8:n.450+617_450+619del | |
| ENST00000316333.8:c.450+617_450+619del | ENSP00000314480.8:n.450+617_450+619del | |
| NM_001080461.1:c.450+617_450+619del | NP_001073930.1:n.450+617_450+619del | |
| NM_001080461.2:c.450+617_450+619del | NP_001073930.1:n.450+617_450+619del | |
| NM_001080461.3:c.450+617_450+619del MANE Select | NP_001073930.1:n.450+617_450+619del |