Linked Data
dbSNP Id:
rs1426886694
MyVariant Identifiers:
chr1:g.27023001_27023002insGGGCGAGGCGGC (hg19)
chr1:g.26696510_26696511insGGGCGAGGCGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696513_26696524dup , CM000663.2:g.26696513_26696524dup | GRCh38 |
| NC_000001.10:g.27023004_27023015dup , CM000663.1:g.27023004_27023015dup | GRCh37 |
| NC_000001.9:g.26895591_26895602dup | NCBI36 |
| NG_029965.1:g.5483_5494dup , LRG_875:g.5483_5494dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.110_121dup MANE Select | ENSP00000320485.7:p.Ala40_Ala41insGlyGluAlaAla | |
| ENST00000430799.7:c.-13+2896_-13+2907dup | ENSP00000390317.3:n.-13+2896_-13+2907dup | |
| ENST00000637465.1:c.-13+413_-13+424dup | ENSP00000490650.1:n.-13+413_-13+424dup | |
| ENST00000324856.11:c.110_121dup | ENSP00000320485.7:p.Ala40_Ala41insGlyGluAlaAla | |
| ENST00000457599.6:c.110_121dup | ENSP00000387636.2:p.Ala40_Ala41insGlyGluAlaAla | |
| NM_006015.4:c.110_121dup , LRG_875t1:c.110_121dup | NP_006006.3:p.Ala40_Ala41insGlyGluAlaAla | |
| NM_139135.2:c.110_121dup | NP_624361.1:p.Ala40_Ala41insGlyGluAlaAla | |
| NM_006015.5:c.110_121dup | NP_006006.3:p.Ala40_Ala41insGlyGluAlaAla | |
| NM_139135.3:c.110_121dup | NP_624361.1:p.Ala40_Ala41insGlyGluAlaAla | |
| NM_006015.6:c.110_121dup MANE Select | NP_006006.3:p.Ala40_Ala41insGlyGluAlaAla | |
| NM_139135.4:c.110_121dup | NP_624361.1:p.Ala40_Ala41insGlyGluAlaAla |