Linked Data
ClinVar Variation Id:
31013
dbSNP Id:
rs587776895
gnomAD v2:
17-76989931-T-TGGCGC
gnomAD v3:
17-78993849-T-TGGCGC
gnomAD v4:
17-78993849-T-TGGCGC
MyVariant Identifiers:
chr17:g.76989932_76989936dupGGCGC (hg19)
chr17:g.76989931_76989932insGGCGC (hg19)
chr17:g.78993850_78993854dupGGCGC (hg38)
chr17:g.78993849_78993850insGGCGC (hg38)
PubMed:
PMID:20425819
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78993858_78993862dup , CM000679.2:g.78993858_78993862dup | GRCh38 |
| NC_000017.10:g.76989940_76989944dup , CM000679.1:g.76989940_76989944dup | GRCh37 |
| NC_000017.9:g.74501535_74501539dup | NCBI36 |
| NG_016645.1:g.20964_20968dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392446.10:c.902_906dup MANE Select | ENSP00000376241.4:p.Ser303AlafsTer21 | |
| ENST00000302345.6:c.902_906dup | ENSP00000307674.2:p.Ser303AlafsTer21 | |
| ENST00000392446.9:c.902_906dup | ENSP00000376241.4:p.Ser303AlafsTer21 | |
| ENST00000588096.1:n.299_303dup | ||
| ENST00000591773.5:c.902_906dup | ENSP00000467437.1:p.Ser303AlafsTer21 | |
| ENST00000592228.1:c.648-1093_648-1089dup | ENSP00000466743.1:n.648-1093_648-1089dup | |
| ENST00000620915.4:c.902_906dup | ENSP00000477798.1:p.Ser303AlafsTer21 | |
| NM_001159772.1:c.902_906dup | NP_001153244.1:p.Ser303AlafsTer21 | |
| NM_001159773.1:c.902_906dup | NP_001153245.1:p.Ser303AlafsTer21 | |
| NM_138793.3:c.902_906dup | NP_620148.1:p.Ser303AlafsTer21 | |
| XM_005257020.1:c.902_906dup | XP_005257077.1:p.Ser303AlafsTer21 | |
| XM_005257021.1:c.902_906dup | XP_005257078.1:p.Ser303AlafsTer21 | |
| XM_005257022.1:c.902_906dup | XP_005257079.1:p.Ser303AlafsTer21 | |
| XM_006721683.1:c.902_906dup | XP_006721746.1:p.Ser303AlafsTer21 | |
| XM_011524291.1:c.902_906dup | XP_011522593.1:p.Ser303AlafsTer21 | |
| XM_011524292.1:c.902_906dup | XP_011522594.1:p.Ser303AlafsTer21 | |
| XM_011524293.1:c.902_906dup | XP_011522595.1:p.Ser303AlafsTer21 | |
| XM_011524294.1:c.902_906dup | XP_011522596.1:p.Ser303AlafsTer21 | |
| XM_011524295.1:c.902_906dup | XP_011522597.1:p.Ser303AlafsTer21 | |
| XM_011524294.2:c.902_906dup | XP_011522596.1:p.Ser303AlafsTer21 | |
| XM_011524295.2:c.902_906dup | XP_011522597.1:p.Ser303AlafsTer21 | |
| XM_024450564.1:c.902_906dup | XP_024306332.1:p.Ser303AlafsTer21 | |
| XR_001752424.2:n.1346_1350dup | ||
| NM_001159773.2:c.902_906dup MANE Select | NP_001153245.1:p.Ser303AlafsTer21 | |
| NM_001159772.2:c.902_906dup | NP_001153244.1:p.Ser303AlafsTer21 | |
| NM_138793.4:c.902_906dup | NP_620148.1:p.Ser303AlafsTer21 |