Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053074dup , CM000664.2:g.223053074dup | GRCh38 |
| NC_000002.11:g.223917792dup , CM000664.1:g.223917792dup | GRCh37 |
| NC_000002.10:g.223626036dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.244dup MANE Select | ENSP00000281830.5:p.Glu82GlyfsTer? | |
| ENST00000281830.3:c.397dup | ENSP00000281830.4:p.Glu133GlyfsTer? | |
| ENST00000488477.2:n.75+800dup | ||
| NM_080671.3:c.397dup | NP_542402.3:p.Glu133GlyfsTer? | |
| NM_080671.4:c.244dup MANE Select | NP_542402.4:p.Glu82GlyfsTer? |