Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781899dup , CM000672.2:g.94781899dup | GRCh38 |
| NC_000010.10:g.96541656dup , CM000672.1:g.96541656dup | GRCh37 |
| NC_000010.9:g.96531646dup | NCBI36 |
| NG_008384.2:g.24194dup | |
| NG_008384.3:g.24219dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.721dup MANE Select | NP_000760.1:p.Glu241GlyfsTer3 |
| ENST00000371321.9:c.721dup MANE Select | ENSP00000360372.3:p.Glu241GlyfsTer3 |
| NM_000769.2:c.721dup | NP_000760.1:p.Glu241GlyfsTer3 |
| ENST00000371321.7:c.721dup | ENSP00000360372.3:p.Glu241GlyfsTer3 |
| ENST00000464755.1:c.1484dup | ENSP00000483243.1:n.1484dup |
| ENST00000645461.1:n.1774dup |