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:
219878
ClinVar RCV Id:
RCV001379062
dbSNP Id:
rs864622292
MyVariant Identifiers:
chr17:g.68171587_68171589delinsTTT (hg19)
chr17:g.70175446_70175448delinsTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175446_70175448delinsTTT , CM000679.2:g.70175446_70175448delinsTTT | GRCh38 |
| NC_000017.10:g.68171587_68171589delinsTTT , CM000679.1:g.68171587_68171589delinsTTT | GRCh37 |
| NC_000017.9:g.65683182_65683184delinsTTT | NCBI36 |
| NG_008798.1:g.10912_10914delinsTTT , LRG_328:g.10912_10914delinsTTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243457.4:c.407_409delinsTTT MANE Select | ENSP00000243457.2:p.Ser136_Ile137delinsPh... | |
| ENST00000243457.3:c.407_409delinsTTT | ENSP00000243457.2:p.Ser136_Ile137delinsPh... | |
| ENST00000535240.1:c.407_409delinsTTT | ENSP00000441848.1:p.Ser136_Ile137delinsPh... | |
| NM_000891.2:c.407_409delinsTTT , LRG_328t1:c.407_409delinsTTT | NP_000882.1:p.Ser136_Ile137delinsPhePhe | |
| XM_011524779.1:c.407_409delinsTTT | XP_011523081.1:p.Ser136_Ile137delinsPhePh... | |
| NM_000891.3:c.407_409delinsTTT MANE Select | NP_000882.1:p.Ser136_Ile137delinsPhePhe |