Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2285460dup , CM000678.2:g.2285460dup | GRCh38 |
| NC_000016.9:g.2335461dup , CM000678.1:g.2335461dup | GRCh37 |
| NC_000016.8:g.2275462dup | NCBI36 |
| NG_011790.1:g.60290dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.3468dup MANE Select | ENSP00000301732.5:p.Ser1157GlnfsTer9 | |
| ENST00000301732.9:c.3468dup | ENSP00000301732.5:p.Ser1157GlnfsTer9 | |
| ENST00000382381.7:c.3294dup | ENSP00000371818.3:p.Ser1099GlnfsTer9 | |
| NM_001089.2:c.3468dup | NP_001080.2:p.Ser1157GlnfsTer9 | |
| NM_001089.3:c.3468dup MANE Select | NP_001080.2:p.Ser1157GlnfsTer9 |