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:
5183
ClinVar RCV Id:
RCV000005492
dbSNP Id:
rs113994158
gnomAD v4:
15-89776853-C-CCCGA
MyVariant Identifiers:
chr15:g.90320088_90320091dupACCG (hg19)
chr15:g.89776857_89776860dupACCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776857_89776860dup , CM000677.2:g.89776857_89776860dup | GRCh38 |
| NC_000015.9:g.90320088_90320091dup , CM000677.1:g.90320088_90320091dup | GRCh37 |
| NC_000015.8:g.88121092_88121095dup | NCBI36 |
| NG_008608.1:g.5500_5503dup | |
| NG_008608.2:g.21267_21270dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341735.5:c.500_503dup MANE Select | ENSP00000342392.3:p.Gly169ProfsTer? | |
| ENST00000341735.3:c.500_503dup | ENSP00000342392.3:p.Gly169ProfsTer? | |
| ENST00000558723.1:n.39-1208_39-1205dup | ||
| ENST00000560219.2:c.31-1208_31-1205dup | ENSP00000452998.1:n.31-1208_31-1205dup | |
| NM_001039958.1:c.500_503dup | NP_001035047.1:p.Gly169ProfsTer? | |
| NM_001039958.2:c.500_503dup MANE Select | NP_001035047.1:p.Gly169ProfsTer? |