Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110584281dup , CM000672.2:g.110584281dup | GRCh38 |
| NC_000010.10:g.112344039dup , CM000672.1:g.112344039dup | GRCh37 |
| NC_000010.9:g.112334029dup | NCBI36 |
| NG_012217.1:g.21591dup , LRG_774:g.21591dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.1835dup | ||
| ENST00000687823.1:n.1104dup | ||
| ENST00000689932.1:n.3253dup | ||
| ENST00000691297.1:n.1323dup | ||
| ENST00000691527.1:n.1993dup | ||
| ENST00000692792.1:n.1309dup | ||
| ENST00000361804.5:c.1190dup MANE Select | ENSP00000354720.5:p.Glu398GlyfsTer10 | |
| ENST00000361804.4:c.1190dup | ENSP00000354720.4:p.Glu398GlyfsTer10 | |
| NM_005445.3:c.1190dup , LRG_774t1:c.1190dup | NP_005436.1:p.Glu398GlyfsTer10 | |
| NM_005445.4:c.1190dup MANE Select | NP_005436.1:p.Glu398GlyfsTer10 |