Linked Data
ClinVar Variation Id:
1350682
ClinVar RCV Id:
RCV002042053
dbSNP Id:
rs1553145949
gnomAD v2:
1-27023256-C-CCGGCGGCGGCGGTGG
gnomAD v3:
1-26696765-C-CCGGCGGCGGCGGTGG
gnomAD v4:
1-26696765-C-CCGGCGGCGGCGGTGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696770_26696784dup , CM000663.2:g.26696770_26696784dup | GRCh38 |
| NC_000001.10:g.27023261_27023275dup , CM000663.1:g.27023261_27023275dup | GRCh37 |
| NC_000001.9:g.26895848_26895862dup | NCBI36 |
| NG_029965.1:g.5740_5754dup , LRG_875:g.5740_5754dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.367_381dup MANE Select | ENSP00000320485.7:p.Gly127_Ser128insGlyGlyGlyGlyGly | |
| ENST00000430799.7:c.-13+3153_-13+3167dup | ENSP00000390317.3:n.-13+3153_-13+3167dup | |
| ENST00000637465.1:c.-13+670_-13+684dup | ENSP00000490650.1:n.-13+670_-13+684dup | |
| ENST00000324856.11:c.367_381dup | ENSP00000320485.7:p.Gly127_Ser128insGlyGlyGlyGlyGly | |
| ENST00000457599.6:c.367_381dup | ENSP00000387636.2:p.Gly127_Ser128insGlyGlyGlyGlyGly | |
| NM_006015.4:c.367_381dup , LRG_875t1:c.367_381dup | NP_006006.3:p.Gly127_Ser128insGlyGlyGlyGlyGly | |
| NM_139135.2:c.367_381dup | NP_624361.1:p.Gly127_Ser128insGlyGlyGlyGlyGly | |
| NM_006015.5:c.367_381dup | NP_006006.3:p.Gly127_Ser128insGlyGlyGlyGlyGly | |
| NM_139135.3:c.367_381dup | NP_624361.1:p.Gly127_Ser128insGlyGlyGlyGlyGly | |
| NM_006015.6:c.367_381dup MANE Select | NP_006006.3:p.Gly127_Ser128insGlyGlyGlyGlyGly | |
| NM_139135.4:c.367_381dup | NP_624361.1:p.Gly127_Ser128insGlyGlyGlyGlyGly |