Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226625_5226629dup , CM000673.2:g.5226625_5226629dup | GRCh38 |
| NC_000011.9:g.5247855_5247859dup , CM000673.1:g.5247855_5247859dup | GRCh37 |
| NC_000011.8:g.5204431_5204435dup | NCBI36 |
| NG_000007.3:g.70987_70991dup | |
| NG_059281.1:g.5443_5447dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.263_267dup | ENSP00000494175.1:p.Ser90HisfsTer2 | |
| ENST00000335295.4:c.263_267dup MANE Select | ENSP00000333994.3:p.Ser90HisfsTer2 | |
| ENST00000380315.2:c.263_267dup | ENSP00000369671.2:p.Ser90HisfsTer2 | |
| ENST00000475226.1:n.195_199dup | ||
| ENST00000485743.1:n.314_318dup | ||
| ENST00000633227.1:c.*79_*83dup | ENSP00000488004.1:n.*79_*83dup | |
| NM_000518.4:c.263_267dup | NP_000509.1:p.Ser90HisfsTer2 | |
| NM_000518.5:c.263_267dup MANE Select | NP_000509.1:p.Ser90HisfsTer2 |