Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942335dup , CM000672.2:g.94942335dup | GRCh38 |
| NC_000010.10:g.96702092dup , CM000672.1:g.96702092dup | GRCh37 |
| NC_000010.9:g.96692082dup | NCBI36 |
| NG_008385.1:g.8678dup | |
| NG_008385.2:g.9178dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.475dup MANE Select | ENSP00000260682.6:p.Thr159AsnfsTer7 | |
| ENST00000643112.1:c.475dup | ENSP00000496202.1:p.Thr159AsnfsTer7 | |
| ENST00000645207.1:n.628dup | ||
| ENST00000260682.6:c.475dup | ENSP00000260682.6:p.Thr159AsnfsTer7 | |
| ENST00000461906.1:n.500dup | ||
| ENST00000473496.1:n.246dup | ||
| NM_000771.3:c.475dup | NP_000762.2:p.Thr159AsnfsTer7 | |
| NM_000771.4:c.475dup MANE Select | NP_000762.2:p.Thr159AsnfsTer7 |