Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590829_61590830dup , CM000679.2:g.61590829_61590830dup | GRCh38 |
| NC_000017.10:g.59668190_59668191dup , CM000679.1:g.59668190_59668191dup | GRCh37 |
| NC_000017.9:g.57022972_57022973dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.351_352dup MANE Select | ENSP00000427802.1:p.Asp118GlyfsTer5 | |
| ENST00000521764.2:c.351_352dup | ENSP00000427802.1:p.Asp118GlyfsTer5 | |
| NM_199290.3:c.351_352dup | NP_954984.1:p.Asp118GlyfsTer5 | |
| NM_199290.4:c.351_352dup MANE Select | NP_954984.1:p.Asp118GlyfsTer5 |