WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
224604
ClinVar RCV Id:
RCV000210223
dbSNP Id:
rs869320761
MyVariant Identifiers:
chr15:g.62305258_62305261dupTCTG (hg19)
chr15:g.62305257_62305258insTCTG (hg19)
chr15:g.62013059_62013062dupTCTG (hg38)
chr15:g.62013058_62013059insTCTG (hg38)
PubMed:
PMID:26942284
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.62013059_62013062dup , CM000677.2:g.62013059_62013062dup | GRCh38 |
| NC_000015.9:g.62305258_62305261dup , CM000677.1:g.62305258_62305261dup | GRCh37 |
| NC_000015.8:g.60092550_60092553dup | NCBI36 |
| NG_027782.1:g.52404_52407dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644861.2:c.802_805dup MANE Select | ENSP00000493560.2:p.Arg269ThrfsTer14 | |
| ENST00000645819.1:c.802_805dup | ENSP00000496179.1:p.Arg269ThrfsTer14 | |
| ENST00000249837.7:c.673_676dup | ENSP00000249837.3:p.Arg226ThrfsTer14 | |
| ENST00000261517.9:c.802_805dup | ENSP00000261517.5:p.Arg269ThrfsTer14 | |
| ENST00000395896.8:c.802_805dup | ENSP00000379233.4:p.Arg269ThrfsTer14 | |
| ENST00000395898.3:c.673_676dup | ENSP00000379235.3:p.Arg226ThrfsTer14 | |
| NM_001018088.2:c.802_805dup | NP_001018098.1:p.Arg269ThrfsTer14 | |
| NM_017684.4:c.673_676dup | NP_060154.3:p.Arg226ThrfsTer14 | |
| NM_018080.3:c.673_676dup | NP_060550.2:p.Arg226ThrfsTer14 | |
| NM_020821.2:c.802_805dup | NP_065872.1:p.Arg269ThrfsTer14 | |
| XM_011521713.1:c.802_805dup | XP_011520015.1:p.Arg269ThrfsTer14 | |
| XM_011521714.1:c.802_805dup | XP_011520016.1:p.Arg269ThrfsTer14 | |
| XR_931854.1:n.854_857dup | ||
| XR_931855.1:n.854_857dup | ||
| XM_011521713.3:c.802_805dup | XP_011520015.1:p.Arg269ThrfsTer14 | |
| XM_011521714.2:c.802_805dup | XP_011520016.1:p.Arg269ThrfsTer14 | |
| XR_001751332.1:n.854_857dup | ||
| XR_931855.2:n.854_857dup | ||
| NM_017684.5:c.673_676dup | NP_060154.3:p.Arg226ThrfsTer14 | |
| NM_020821.3:c.802_805dup MANE Select | NP_065872.1:p.Arg269ThrfsTer14 | |
| NM_001018088.3:c.802_805dup | NP_001018098.1:p.Arg269ThrfsTer14 | |
| NM_018080.4:c.673_676dup | NP_060550.2:p.Arg226ThrfsTer14 |