Linked Data
ClinVar Variation Id:
378061
ClinVar RCV Id:
RCV000428882
dbSNP Id:
rs782246853
ExAC:
10:93905 T / TC
gnomAD v2:
10-93905-T-TC
gnomAD v4:
10-47965-T-TC
MyVariant Identifiers:
chr10:g.93906dupC (hg19)
chr10:g.93905_93906insC (hg19)
chr10:g.47966dupC (hg38)
chr10:g.47965_47966insC (hg38)
PubMed:
PMID:27273344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47971dup , CM000672.2:g.47971dup | GRCh38 |
| NC_000010.10:g.93911dup , CM000672.1:g.93911dup | GRCh37 |
| NC_000010.9:g.83911dup | NCBI36 |
| NG_046777.1:g.33490dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568584.6:c.426dup MANE Select | ENSP00000456206.2:p.Thr143AspfsTer12 | |
| ENST00000561967.1:c.*89dup | ENSP00000454878.1:n.*89dup | |
| ENST00000562809.1:c.*89dup | ENSP00000456899.1:n.*89dup | |
| ENST00000563456.1:n.535dup | ||
| ENST00000564130.2:c.324dup | ENSP00000457610.1:p.Thr109AspfsTer12 | |
| ENST00000567466.1:c.*270dup | ENSP00000454914.1:n.*270dup | |
| ENST00000568584.5:c.426dup | ENSP00000456206.1:p.Thr143AspfsTer12 | |
| ENST00000568866.5:c.315dup | ENSP00000457062.1:p.Thr106AspfsTer12 | |
| NM_177987.2:c.426dup | NP_817124.1:p.Thr143AspfsTer12 | |
| XM_011519458.1:c.210dup | XP_011517760.1:p.Thr71AspfsTer12 | |
| XM_011519459.1:c.210dup | XP_011517761.1:p.Thr71AspfsTer12 | |
| XM_011519460.1:c.64-97dup | XP_011517762.1:n.64-97dup | |
| XM_011519459.3:c.210dup | XP_011517761.1:p.Thr71AspfsTer12 | |
| XM_011519460.2:c.64-97dup | XP_011517762.1:n.64-97dup | |
| XM_017016192.2:c.90dup | XP_016871681.1:p.Thr31AspfsTer12 | |
| XM_017016193.2:c.90dup | XP_016871682.1:p.Thr31AspfsTer12 | |
| NM_177987.3:c.426dup MANE Select | NP_817124.1:p.Thr143AspfsTer12 | |
| NM_001389618.1:c.210dup | NP_001376547.1:p.Thr71AspfsTer12 | |
| NM_001389619.1:c.210dup | NP_001376548.1:p.Thr71AspfsTer12 |