Linked Data
ClinVar Variation Id:
434312
ClinVar RCV Id:
RCV002524152
dbSNP Id:
rs777773061
gnomAD v2:
1-27023140-T-TGGCGGCGGCGGCGGAGCC
gnomAD v3:
1-26696649-T-TGGCGGCGGCGGCGGAGCC
gnomAD v4:
1-26696649-T-TGGCGGCGGCGGCGGAGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696653_26696670dup , CM000663.2:g.26696653_26696670dup | GRCh38 |
| NC_000001.10:g.27023144_27023161dup , CM000663.1:g.27023144_27023161dup | GRCh37 |
| NC_000001.9:g.26895731_26895748dup | NCBI36 |
| NG_029965.1:g.5623_5640dup , LRG_875:g.5623_5640dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324856.13:c.250_267dup MANE Select | ENSP00000320485.7:p.Gly89_Ser90insGlyGlyG... | |
| ENST00000430799.7:c.-13+3036_-13+3053dup | ENSP00000390317.3:n.-13+3036_-13+3053dup | |
| ENST00000637465.1:c.-13+553_-13+570dup | ENSP00000490650.1:n.-13+553_-13+570dup | |
| ENST00000324856.11:c.250_267dup | ENSP00000320485.7:p.Gly89_Ser90insGlyGlyG... | |
| ENST00000457599.6:c.250_267dup | ENSP00000387636.2:p.Gly89_Ser90insGlyGlyG... | |
| NM_006015.4:c.250_267dup , LRG_875t1:c.250_267dup | NP_006006.3:p.Gly89_Ser90insGlyGlyGlyGlyA... | |
| NM_139135.2:c.250_267dup | NP_624361.1:p.Gly89_Ser90insGlyGlyGlyGlyA... | |
| NM_006015.5:c.250_267dup | NP_006006.3:p.Gly89_Ser90insGlyGlyGlyGlyA... | |
| NM_139135.3:c.250_267dup | NP_624361.1:p.Gly89_Ser90insGlyGlyGlyGlyA... | |
| NM_006015.6:c.250_267dup MANE Select | NP_006006.3:p.Gly89_Ser90insGlyGlyGlyGlyA... | |
| NM_139135.4:c.250_267dup | NP_624361.1:p.Gly89_Ser90insGlyGlyGlyGlyA... |