Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.1234270_1234271insAAAAA , CM000669.2:g.1234270_1234271insAAAAA | GRCh38 |
| NC_000007.13:g.1273906_1273907insAAAAA , CM000669.1:g.1273906_1273907insAAAAA | GRCh37 |
| NC_000007.12:g.1240432_1240433insAAAAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316333.9:c.450+575_450+576insAAAAA MANE Select | ENSP00000314480.8:n.450+575_450+576insAAAAA | |
| ENST00000316333.8:c.450+575_450+576insAAAAA | ENSP00000314480.8:n.450+575_450+576insAAAAA | |
| NM_001080461.1:c.450+575_450+576insAAAAA | NP_001073930.1:n.450+575_450+576insAAAAA | |
| NM_001080461.2:c.450+575_450+576insAAAAA | NP_001073930.1:n.450+575_450+576insAAAAA | |
| NM_001080461.3:c.450+575_450+576insAAAAA MANE Select | NP_001073930.1:n.450+575_450+576insAAAAA |