Linked Data
dbSNP Id:
rs1553145905
gnomAD v3:
1-26696651-G-GCGGCGGCGGCGGAGC
gnomAD v4:
1-26696651-G-GCGGCGGCGGCGGAGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696656_26696670dup , CM000663.2:g.26696656_26696670dup | GRCh38 |
| NC_000001.10:g.27023147_27023161dup , CM000663.1:g.27023147_27023161dup | GRCh37 |
| NC_000001.9:g.26895734_26895748dup | NCBI36 |
| NG_029965.1:g.5626_5640dup , LRG_875:g.5626_5640dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.253_267dup MANE Select | ENSP00000320485.7:p.Gly89_Ser90insGlyGlyGlyAlaGly | |
| ENST00000430799.7:c.-13+3039_-13+3053dup | ENSP00000390317.3:n.-13+3039_-13+3053dup | |
| ENST00000637465.1:c.-13+556_-13+570dup | ENSP00000490650.1:n.-13+556_-13+570dup | |
| ENST00000324856.11:c.253_267dup | ENSP00000320485.7:p.Gly89_Ser90insGlyGlyGlyAlaGly | |
| ENST00000457599.6:c.253_267dup | ENSP00000387636.2:p.Gly89_Ser90insGlyGlyGlyAlaGly | |
| NM_006015.4:c.253_267dup , LRG_875t1:c.253_267dup | NP_006006.3:p.Gly89_Ser90insGlyGlyGlyAlaGly | |
| NM_139135.2:c.253_267dup | NP_624361.1:p.Gly89_Ser90insGlyGlyGlyAlaGly | |
| NM_006015.5:c.253_267dup | NP_006006.3:p.Gly89_Ser90insGlyGlyGlyAlaGly | |
| NM_139135.3:c.253_267dup | NP_624361.1:p.Gly89_Ser90insGlyGlyGlyAlaGly | |
| NM_006015.6:c.253_267dup MANE Select | NP_006006.3:p.Gly89_Ser90insGlyGlyGlyAlaGly | |
| NM_139135.4:c.253_267dup | NP_624361.1:p.Gly89_Ser90insGlyGlyGlyAlaGly |