Linked Data
ClinVar Variation Id:
2974941
ClinVar RCV Id:
RCV003838563
dbSNP Id:
rs1198497895
gnomAD v3:
1-26696665-G-GCCGGCAGCGGCGGCGGGC
gnomAD v4:
1-26696665-G-GCCGGCAGCGGCGGCGGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696671_26696688dup , CM000663.2:g.26696671_26696688dup | GRCh38 |
| NC_000001.10:g.27023162_27023179dup , CM000663.1:g.27023162_27023179dup | GRCh37 |
| NC_000001.9:g.26895749_26895766dup | NCBI36 |
| NG_029965.1:g.5641_5658dup , LRG_875:g.5641_5658dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.268_285dup MANE Select | ENSP00000320485.7:p.Gly95_Ala96insSerGlyGlyGlyProGly | |
| ENST00000430799.7:c.-13+3054_-13+3071dup | ENSP00000390317.3:n.-13+3054_-13+3071dup | |
| ENST00000637465.1:c.-13+571_-13+588dup | ENSP00000490650.1:n.-13+571_-13+588dup | |
| ENST00000324856.11:c.268_285dup | ENSP00000320485.7:p.Gly95_Ala96insSerGlyGlyGlyProGly | |
| ENST00000457599.6:c.268_285dup | ENSP00000387636.2:p.Gly95_Ala96insSerGlyGlyGlyProGly | |
| NM_006015.4:c.268_285dup , LRG_875t1:c.268_285dup | NP_006006.3:p.Gly95_Ala96insSerGlyGlyGlyProGly | |
| NM_139135.2:c.268_285dup | NP_624361.1:p.Gly95_Ala96insSerGlyGlyGlyProGly | |
| NM_006015.5:c.268_285dup | NP_006006.3:p.Gly95_Ala96insSerGlyGlyGlyProGly | |
| NM_139135.3:c.268_285dup | NP_624361.1:p.Gly95_Ala96insSerGlyGlyGlyProGly | |
| NM_006015.6:c.268_285dup MANE Select | NP_006006.3:p.Gly95_Ala96insSerGlyGlyGlyProGly | |
| NM_139135.4:c.268_285dup | NP_624361.1:p.Gly95_Ala96insSerGlyGlyGlyProGly |