Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.763859dup , CM000673.2:g.763859dup | GRCh38 |
| NC_000011.9:g.763859dup , CM000673.1:g.763859dup | GRCh37 |
| NC_000011.8:g.753859dup | NCBI36 |
| NG_008160.1:g.21428dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006755.2:c.750dup MANE Select | NP_006746.1:p.Asp251Ter |
| ENST00000319006.8:c.750dup MANE Select | ENSP00000321259.3:p.Asp251Ter |
| NM_006755.1:c.750dup | NP_006746.1:p.Asp251Ter |
| ENST00000319006.7:c.750dup | ENSP00000321259.3:p.Asp251Ter |
| ENST00000528097.5:c.750dup | ENSP00000437098.1:p.Asp251Ter |