Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323102dup , CM000667.2:g.159323102dup | GRCh38 |
| NC_000005.9:g.158750110dup , CM000667.1:g.158750110dup | GRCh37 |
| NC_000005.8:g.158682688dup | NCBI36 |
| NG_009618.1:g.12376dup , LRG_71:g.12376dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002187.3:c.320dup MANE Select | NP_002178.2:p.Glu108GlyfsTer8 |
| ENST00000231228.3:c.320dup MANE Select | ENSP00000231228.2:p.Glu108GlyfsTer8 |
| NM_002187.2:c.320dup , LRG_71t1:c.320dup | NP_002178.2:p.Glu108GlyfsTer8 |
| ENST00000231228.2:c.320dup | ENSP00000231228.2:p.Glu108GlyfsTer8 |
| ENST00000696750.1:c.-148-2578dup | ENSP00000512849.1:n.-148-2578dup |
| ENST00000696751.1:c.320dup | ENSP00000512850.1:p.Glu108GlyfsTer8 |
| XR_001742945.1:n.148-2432dup |