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:
1623178
ClinVar RCV Id:
RCV002108805
dbSNP Id:
rs770630710
ExAC:
11:5247793 T / TCC
gnomAD v2:
11-5247793-T-TCC
gnomAD v4:
11-5226563-T-TCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226565_5226566dup , CM000673.2:g.5226565_5226566dup | GRCh38 |
| NC_000011.9:g.5247795_5247796dup , CM000673.1:g.5247795_5247796dup | GRCh37 |
| NC_000011.8:g.5204371_5204372dup | NCBI36 |
| NG_000007.3:g.71051_71052dup | |
| NG_059281.1:g.5507_5508dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.315+12_315+13dup | ENSP00000494175.1:n.315+12_315+13dup | |
| ENST00000335295.4:c.315+12_315+13dup MANE Select | ENSP00000333994.3:n.315+12_315+13dup | |
| ENST00000475226.1:n.247+12_247+13dup | ||
| ENST00000485743.1:n.378_379dup | ||
| ENST00000633227.1:c.*131+12_*131+13dup | ENSP00000488004.1:n.*131+12_*131+13dup | |
| NM_000518.4:c.315+12_315+13dup | NP_000509.1:n.315+12_315+13dup | |
| NM_000518.5:c.315+12_315+13dup MANE Select | NP_000509.1:n.315+12_315+13dup |