Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94011291_94011317dup , CM000663.2:g.94011291_94011317dup | GRCh38 |
| NC_000001.10:g.94476847_94476873dup , CM000663.1:g.94476847_94476873dup | GRCh37 |
| NC_000001.9:g.94249435_94249461dup | NCBI36 |
| NG_009073.1:g.114835_114861dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.5531_5557dup MANE Select | ENSP00000359245.3:p.Gln1852_Ala1853insGly... | |
| ENST00000370225.3:c.5531_5557dup | ENSP00000359245.3:p.Gln1852_Ala1853insGly... | |
| ENST00000536513.5:c.1907_1933dup | ENSP00000439707.2:p.Gln644_Ala645insGlyLe... | |
| NM_000350.2:c.5531_5557dup | NP_000341.2:p.Gln1852_Ala1853insGlyLeuIle... | |
| NM_000350.3:c.5531_5557dup MANE Select | NP_000341.2:p.Gln1852_Ala1853insGlyLeuIle... |