Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227000_5227044dup , CM000673.2:g.5227000_5227044dup | GRCh38 |
| NC_000011.9:g.5248230_5248274dup , CM000673.1:g.5248230_5248274dup | GRCh37 |
| NC_000011.8:g.5204806_5204850dup | NCBI36 |
| NG_000007.3:g.70573_70617dup | |
| NG_059281.1:g.5029_5073dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.-22_23dup | ENSP00000494175.1:p.Glu8AspfsTer2 | |
| ENST00000335295.4:c.-22_23dup MANE Select | ENSP00000333994.3:p.Glu8AspfsTer2 | |
| ENST00000380315.2:c.-18-4_23dup | ||
| ENST00000485743.1:n.30_74dup | ||
| ENST00000633227.1:c.-22_23dup | ENSP00000488004.1:p.Glu8AspfsTer2 | |
| NM_000518.4:c.-22_23dup | NP_000509.1:p.Glu8AspfsTer2 | |
| NM_000518.5:c.-22_23dup MANE Select | NP_000509.1:p.Glu8AspfsTer2 |