Linked Data
ClinVar Variation Id:
2989609
ClinVar RCV Id:
RCV003842240
dbSNP Id:
rs764617689
ExAC:
17:36891866 T / TG
gnomAD v2:
17-36891866-T-TG
gnomAD v3:
17-38735613-T-TG
gnomAD v4:
17-38735613-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.38735617dup , CM000679.2:g.38735617dup | GRCh38 |
| NC_000017.10:g.36891870dup , CM000679.1:g.36891870dup | GRCh37 |
| NC_000017.9:g.34145396dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620225.5:c.658-14dup MANE Select | ENSP00000482815.1:n.658-14dup | |
| ENST00000611883.4:c.658-14dup | ENSP00000478970.1:n.658-14dup | |
| ENST00000616129.4:c.662-14dup | ENSP00000484201.1:n.662-14dup | |
| ENST00000616199.4:c.658-14dup | ENSP00000482063.1:n.658-14dup | |
| ENST00000618506.1:c.500-14dup | ENSP00000484721.1:n.500-14dup | |
| ENST00000618941.4:c.662-14dup | ENSP00000481656.1:n.662-14dup | |
| ENST00000620225.4:c.658-14dup | ENSP00000482815.1:n.658-14dup | |
| NM_007144.2:c.658-14dup | NP_009075.1:n.658-14dup | |
| XM_005257640.1:c.658-14dup | XP_005257697.1:n.658-14dup | |
| XM_005257641.3:c.658-14dup | XP_005257698.1:n.658-14dup | |
| XM_005257642.2:c.658-14dup | XP_005257699.1:n.658-14dup | |
| XM_005257640.2:c.658-14dup | XP_005257697.1:n.658-14dup | |
| XM_005257641.5:c.658-14dup | XP_005257698.1:n.658-14dup | |
| XM_005257642.3:c.658-14dup | XP_005257699.1:n.658-14dup | |
| XM_017025016.1:c.658-14dup | XP_016880505.1:n.658-14dup | |
| NM_007144.3:c.658-14dup MANE Select | NP_009075.1:n.658-14dup | |
| NM_001369614.1:c.658-14dup | NP_001356543.1:n.658-14dup | |
| NM_001369615.1:c.658-14dup | NP_001356544.1:n.658-14dup |