Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527954dup , CM000681.2:g.7527954dup | GRCh38 |
| NC_000019.9:g.7592840dup , CM000681.1:g.7592840dup | GRCh37 |
| NC_000019.8:g.7498840dup | NCBI36 |
| NG_015806.1:g.10345dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.771dup MANE Select | ENSP00000264079.5:p.Val258ArgfsTer6 | |
| ENST00000264079.10:c.771dup | ENSP00000264079.5:p.Val258ArgfsTer6 | |
| ENST00000394321.9:n.1086dup | ||
| NM_020533.2:c.771dup | NP_065394.1:p.Val258ArgfsTer6 | |
| NM_020533.3:c.771dup MANE Select | NP_065394.1:p.Val258ArgfsTer6 |