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:
4870
ClinVar RCV Id:
RCV000005146
dbSNP Id:
rs387906322
gnomAD v4:
3-138946024-G-GGCTGCAGCCGCAGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946036_138946050dup , CM000665.2:g.138946036_138946050dup | GRCh38 |
| NC_000003.11:g.138664878_138664892dup , CM000665.1:g.138664878_138664892dup | GRCh37 |
| NC_000003.10:g.140147568_140147582dup | NCBI36 |
| NG_012454.1:g.6102_6116dup | |
| NG_029796.1:g.3803_3817dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648323.1:c.684_698dup MANE Select | ENSP00000497217.1:p.Ala233_Ala234insAlaAl... | |
| ENST00000330315.3:c.684_698dup | ENSP00000333188.3:p.Ala233_Ala234insAlaAl... | |
| NM_023067.3:c.684_698dup | NP_075555.1:p.Ala233_Ala234insAlaAlaAlaAl... | |
| NM_023067.4:c.684_698dup MANE Select | NP_075555.1:p.Ala233_Ala234insAlaAlaAlaAl... |