Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218882193dup , CM000664.2:g.218882193dup | GRCh38 |
| NC_000002.11:g.219746915dup , CM000664.1:g.219746915dup | GRCh37 |
| NC_000002.10:g.219455159dup | NCBI36 |
| NG_012179.1:g.6661dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.146dup MANE Select | ENSP00000258411.3:p.Glu52GlyfsTer? | |
| ENST00000258411.7:c.146dup | ENSP00000258411.3:p.Glu52GlyfsTer? | |
| ENST00000458582.1:c.33dup | ||
| NM_025216.2:c.146dup | NP_079492.2:p.Glu52GlyfsTer? | |
| XM_011511928.1:c.95dup | XP_011510230.1:p.Glu35GlyfsTer? | |
| XM_011511929.1:c.50dup | XP_011510231.1:p.Glu20GlyfsTer? | |
| XM_011511930.1:c.146dup | XP_011510232.1:p.Glu52GlyfsTer? | |
| XM_011511929.2:c.50dup | XP_011510231.1:p.Glu20GlyfsTer? | |
| NM_025216.3:c.146dup MANE Select | NP_079492.2:p.Glu52GlyfsTer? |