Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781863dup , CM000672.2:g.94781863dup | GRCh38 |
| NC_000010.10:g.96541620dup , CM000672.1:g.96541620dup | GRCh37 |
| NC_000010.9:g.96531610dup | NCBI36 |
| NG_008384.2:g.24158dup | |
| NG_008384.3:g.24183dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.685dup MANE Select | ENSP00000360372.3:p.Thr229AsnfsTer3 | |
| ENST00000645461.1:n.1738dup | ||
| ENST00000371321.7:c.685dup | ENSP00000360372.3:p.Thr229AsnfsTer3 | |
| ENST00000464755.1:c.1448dup | ENSP00000483243.1:n.1448dup | |
| NM_000769.2:c.685dup | NP_000760.1:p.Thr229AsnfsTer3 | |
| NM_000769.4:c.685dup MANE Select | NP_000760.1:p.Thr229AsnfsTer3 |