Linked Data
ClinVar Variation Id:
378049
ClinVar RCV Id:
RCV000430820
dbSNP Id:
rs1057520302
gnomAD v3:
15-48288429-T-TC
gnomAD v4:
15-48288429-T-TC
MyVariant Identifiers:
chr15:g.48580627dupC (hg19)
chr15:g.48580626_48580627insC (hg19)
chr15:g.48288430dupC (hg38)
chr15:g.48288429_48288430insC (hg38)
PubMed:
PMID:26963954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48288430dup , CM000677.2:g.48288430dup | GRCh38 |
| NC_000015.9:g.48580627dup , CM000677.1:g.48580627dup | GRCh37 |
| NC_000015.8:g.46367919dup | NCBI36 |
| NG_021301.1:g.87130dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686073.1:c.2787dup | ENSP00000508901.1:p.Thr931AsnfsTer10 | |
| ENST00000380993.8:c.2787dup MANE Select | ENSP00000370381.3:p.Thr931AsnfsTer10 | |
| ENST00000646012.1:c.2925dup | ENSP00000495813.1:p.Thr977AsnfsTer10 | |
| ENST00000647232.1:c.2787dup | ENSP00000493875.1:p.Thr931AsnfsTer10 | |
| ENST00000647546.1:c.2787dup | ENSP00000495332.1:p.Thr931AsnfsTer10 | |
| ENST00000380993.7:c.2787dup | ENSP00000370381.3:p.Thr931AsnfsTer10 | |
| ENST00000396577.7:c.2787dup | ENSP00000379822.3:p.Thr931AsnfsTer10 | |
| ENST00000558252.5:n.6910dup | ||
| ENST00000558405.5:c.2787dup | ENSP00000453409.1:p.Thr931AsnfsTer10 | |
| ENST00000560692.5:n.6926dup | ||
| NM_000338.2:c.2787dup | NP_000329.2:p.Thr931AsnfsTer10 | |
| NM_001184832.1:c.2787dup | NP_001171761.1:p.Thr931AsnfsTer10 | |
| XM_005254605.1:c.2883dup | XP_005254662.1:p.Thr963AsnfsTer10 | |
| XM_005254606.1:c.2787dup | XP_005254663.1:p.Thr931AsnfsTer10 | |
| XM_006720656.1:c.2883dup | XP_006720719.1:p.Thr963AsnfsTer10 | |
| XR_931896.1:n.3100dup | ||
| XM_005254606.2:c.2787dup | XP_005254663.1:p.Thr931AsnfsTer10 | |
| XR_001751523.1:n.1001+1348dup | ||
| NM_000338.3:c.2787dup MANE Select | NP_000329.2:p.Thr931AsnfsTer10 | |
| NM_001184832.2:c.2787dup | NP_001171761.1:p.Thr931AsnfsTer10 | |
| NM_001384136.1:c.2787dup | NP_001371065.1:p.Thr931AsnfsTer10 |