Linked Data
ClinVar Variation Id:
434342
dbSNP Id:
rs374564889
ExAC:
1:27100181 C / CGCAGCA
gnomAD v2:
1-27100181-C-CGCAGCA
gnomAD v3:
1-26773690-C-CGCAGCA
gnomAD v4:
1-26773690-C-CGCAGCA
MyVariant Identifiers:
chr1:g.27100200_27100205dup (hg19)
chr1:g.27100193_27100194insGCAGCA (hg19)
chr1:g.27100190_27100191insGCAGCA (hg19)
chr1:g.27100184_27100185insGCAGCA (hg19)
chr1:g.27100181_27100182insGCAGCA (hg19)
chr1:g.26773709_26773714dup (hg38)
chr1:g.26773702_26773703insGCAGCA (hg38)
chr1:g.26773699_26773700insGCAGCA (hg38)
chr1:g.26773690_26773691insGCAGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26773709_26773714dup , CM000663.2:g.26773709_26773714dup | GRCh38 |
| NC_000001.10:g.27100200_27100205dup , CM000663.1:g.27100200_27100205dup | GRCh37 |
| NC_000001.9:g.26972787_26972792dup | NCBI36 |
| NG_029965.1:g.82679_82684dup , LRG_875:g.82679_82684dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.3996_4001dup MANE Select | ENSP00000320485.7:p.Gln1334_Arg1335insGlnGln | |
| ENST00000374152.7:c.2847_2852dup | ENSP00000363267.2:p.Gln951_Arg952insGlnGln | |
| ENST00000430799.7:c.2844_2849dup | ENSP00000390317.3:p.Gln950_Arg951insGlnGln | |
| ENST00000466382.2:c.305_310dup | ||
| ENST00000636072.1:n.389_394dup | ||
| ENST00000636219.1:c.2850_2855dup | ENSP00000489842.1:p.Gln952_Arg953insGlnGln | |
| ENST00000636794.1:n.302_307dup | ||
| ENST00000324856.11:c.3996_4001dup | ENSP00000320485.7:p.Gln1334_Arg1335insGlnGln | |
| ENST00000374152.6:c.2847_2852dup | ENSP00000363267.2:p.Gln951_Arg952insGlnGln | |
| ENST00000430799.6:c.685_690dup | ||
| ENST00000457599.6:c.3996_4001dup | ENSP00000387636.2:p.Gln1334_Arg1335insGlnGln | |
| ENST00000466382.1:c.305_310dup | ||
| ENST00000615191.4:c.2844_2849dup | ENSP00000478955.1:p.Gln950_Arg951insGlnGln | |
| NM_006015.4:c.3996_4001dup , LRG_875t1:c.3996_4001dup | NP_006006.3:p.Gln1334_Arg1335insGlnGln | |
| NM_139135.2:c.3996_4001dup | NP_624361.1:p.Gln1334_Arg1335insGlnGln | |
| NM_006015.5:c.3996_4001dup | NP_006006.3:p.Gln1334_Arg1335insGlnGln | |
| NM_139135.3:c.3996_4001dup | NP_624361.1:p.Gln1334_Arg1335insGlnGln | |
| NM_006015.6:c.3996_4001dup MANE Select | NP_006006.3:p.Gln1334_Arg1335insGlnGln | |
| NM_139135.4:c.3996_4001dup | NP_624361.1:p.Gln1334_Arg1335insGlnGln |