Linked Data
ClinVar Variation Id:
126309
dbSNP Id:
rs587779737
gnomAD v2:
1-27023007-A-AGGC
gnomAD v3:
1-26696516-A-AGGC
gnomAD v4:
1-26696516-A-AGGC
COSMIC:
COSM4949888
MyVariant Identifiers:
chr1:g.27023020_27023022dupGGC (hg19)
chr1:g.27023013_27023014insGGC (hg19)
chr1:g.27023010_27023011insGGC (hg19)
chr1:g.27023007_27023008insGGC (hg19)
chr1:g.26696529_26696531dupGGC (hg38)
chr1:g.26696522_26696523insGGC (hg38)
chr1:g.26696519_26696520insGGC (hg38)
chr1:g.26696516_26696517insGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696529_26696531dup , CM000663.2:g.26696529_26696531dup | GRCh38 |
| NC_000001.10:g.27023020_27023022dup , CM000663.1:g.27023020_27023022dup | GRCh37 |
| NC_000001.9:g.26895607_26895609dup | NCBI36 |
| NG_029965.1:g.5499_5501dup , LRG_875:g.5499_5501dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.126_128dup MANE Select | ENSP00000320485.7:p.Ala43_Ala44insAla | |
| ENST00000430799.7:c.-13+2912_-13+2914dup | ENSP00000390317.3:n.-13+2912_-13+2914dup | |
| ENST00000637465.1:c.-13+429_-13+431dup | ENSP00000490650.1:n.-13+429_-13+431dup | |
| ENST00000324856.11:c.126_128dup | ENSP00000320485.7:p.Ala43_Ala44insAla | |
| ENST00000457599.6:c.126_128dup | ENSP00000387636.2:p.Ala43_Ala44insAla | |
| NM_006015.4:c.126_128dup , LRG_875t1:c.126_128dup | NP_006006.3:p.Ala43_Ala44insAla | |
| NM_139135.2:c.126_128dup | NP_624361.1:p.Ala43_Ala44insAla | |
| NM_006015.5:c.126_128dup | NP_006006.3:p.Ala43_Ala44insAla | |
| NM_139135.3:c.126_128dup | NP_624361.1:p.Ala43_Ala44insAla | |
| NM_006015.6:c.126_128dup MANE Select | NP_006006.3:p.Ala43_Ala44insAla | |
| NM_139135.4:c.126_128dup | NP_624361.1:p.Ala43_Ala44insAla |