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:
1155441
ClinVar RCV Id:
RCV001497757
dbSNP Id:
rs746824976
ExAC:
11:5248057 CAGAG / C
gnomAD v2:
11-5248057-CAGAG-C
gnomAD v4:
11-5226827-CAGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226832_5226835del , CM000673.2:g.5226832_5226835del | GRCh38 |
| NC_000011.9:g.5248062_5248065del , CM000673.1:g.5248062_5248065del | GRCh37 |
| NC_000011.8:g.5204638_5204641del | NCBI36 |
| NG_000007.3:g.70785_70788del | |
| NG_059281.1:g.5241_5244del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.93-32_93-29del | ENSP00000494175.1:n.93-32_93-29del | |
| ENST00000335295.4:c.93-32_93-29del MANE Select | ENSP00000333994.3:n.93-32_93-29del | |
| ENST00000380315.2:c.93-32_93-29del | ENSP00000369671.2:n.93-32_93-29del | |
| ENST00000485743.1:n.144-32_144-29del | ||
| ENST00000633227.1:c.77-32_77-29del | ENSP00000488004.1:n.77-32_77-29del | |
| NM_000518.4:c.93-32_93-29del | NP_000509.1:n.93-32_93-29del | |
| NM_000518.5:c.93-32_93-29del MANE Select | NP_000509.1:n.93-32_93-29del |