Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121447015dup , CM000668.2:g.121447015dup | GRCh38 |
| NC_000006.11:g.121768161dup , CM000668.1:g.121768161dup | GRCh37 |
| NC_000006.10:g.121809860dup | NCBI36 |
| NG_008308.1:g.16417dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.168dup MANE Select | ENSP00000282561.3:p.Gln57SerfsTer6 | |
| ENST00000647564.1:c.168dup | ENSP00000497565.1:p.Gln57SerfsTer6 | |
| ENST00000649003.1:c.168dup | ENSP00000497283.1:p.Gln57SerfsTer6 | |
| ENST00000650427.1:c.168dup | ENSP00000497367.1:p.Gln57SerfsTer6 | |
| ENST00000282561.3:c.168dup | ENSP00000282561.3:p.Gln57SerfsTer6 | |
| NM_000165.4:c.168dup | NP_000156.1:p.Gln57SerfsTer6 | |
| NM_000165.5:c.168dup MANE Select | NP_000156.1:p.Gln57SerfsTer6 |