Linked Data
ClinVar Variation Id:
592018
ClinVar RCV Id:
RCV000723202
dbSNP Id:
rs749452696
gnomAD v2:
1-27023144-G-GGCGGCGGCGGAGCCGGCA
gnomAD v3:
1-26696653-G-GGCGGCGGCGGAGCCGGCA
gnomAD v4:
1-26696653-G-GGCGGCGGCGGAGCCGGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696664_26696681dup , CM000663.2:g.26696664_26696681dup | GRCh38 |
| NC_000001.10:g.27023155_27023172dup , CM000663.1:g.27023155_27023172dup | GRCh37 |
| NC_000001.9:g.26895742_26895759dup | NCBI36 |
| NG_029965.1:g.5634_5651dup , LRG_875:g.5634_5651dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.261_278dup MANE Select | ENSP00000320485.7:p.Gly93_Pro94insAlaGlySerGlyGlyGly | |
| ENST00000430799.7:c.-13+3047_-13+3064dup | ENSP00000390317.3:n.-13+3047_-13+3064dup | |
| ENST00000637465.1:c.-13+564_-13+581dup | ENSP00000490650.1:n.-13+564_-13+581dup | |
| ENST00000324856.11:c.261_278dup | ENSP00000320485.7:p.Gly93_Pro94insAlaGlySerGlyGlyGly | |
| ENST00000457599.6:c.261_278dup | ENSP00000387636.2:p.Gly93_Pro94insAlaGlySerGlyGlyGly | |
| NM_006015.4:c.261_278dup , LRG_875t1:c.261_278dup | NP_006006.3:p.Gly93_Pro94insAlaGlySerGlyGlyGly | |
| NM_139135.2:c.261_278dup | NP_624361.1:p.Gly93_Pro94insAlaGlySerGlyGlyGly | |
| NM_006015.5:c.261_278dup | NP_006006.3:p.Gly93_Pro94insAlaGlySerGlyGlyGly | |
| NM_139135.3:c.261_278dup | NP_624361.1:p.Gly93_Pro94insAlaGlySerGlyGlyGly | |
| NM_006015.6:c.261_278dup MANE Select | NP_006006.3:p.Gly93_Pro94insAlaGlySerGlyGlyGly | |
| NM_139135.4:c.261_278dup | NP_624361.1:p.Gly93_Pro94insAlaGlySerGlyGlyGly |