Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424043dup , CM000676.2:g.23424043dup | GRCh38 |
| NC_000014.8:g.23893252dup , CM000676.1:g.23893252dup | GRCh37 |
| NC_000014.7:g.22963092dup | NCBI36 |
| NG_007884.1:g.16619dup , LRG_384:g.16619dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2786dup MANE Select | ENSP00000347507.3:p.Glu930GlyfsTer6 | |
| ENST00000355349.3:c.2786dup | ENSP00000347507.3:p.Glu930GlyfsTer6 | |
| NM_000257.3:c.2786dup | NP_000248.2:p.Glu930GlyfsTer6 | |
| XR_245686.3:n.2892dup | ||
| XM_017021340.1:c.2786dup | XP_016876829.1:p.Glu930GlyfsTer6 | |
| NM_000257.4:c.2786dup MANE Select | NP_000248.2:p.Glu930GlyfsTer6 |