Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1611022dup , CM000668.2:g.1611022dup | GRCh38 |
| NC_000006.11:g.1611257dup , CM000668.1:g.1611257dup | GRCh37 |
| NC_000006.10:g.1556256dup | NCBI36 |
| NG_009368.1:g.5577dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.577dup MANE Select | ENSP00000493906.1:p.Glu193GlyfsTer? | |
| ENST00000380874.3:c.577dup | ENSP00000370256.2:p.Glu193GlyfsTer? | |
| NM_001453.2:c.577dup | NP_001444.2:p.Glu193GlyfsTer? | |
| NM_001453.3:c.577dup MANE Select | NP_001444.2:p.Glu193GlyfsTer? |