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:
424264
dbSNP Id:
rs764611160
ExAC:
7:107556068 CAG / C
gnomAD v2:
7-107556068-CAG-C
gnomAD v4:
7-107915623-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107915624_107915625del , CM000669.2:g.107915624_107915625del | GRCh38 |
| NC_000007.13:g.107556069_107556070del , CM000669.1:g.107556069_107556070del | GRCh37 |
| NC_000007.12:g.107343305_107343306del | NCBI36 |
| NG_008045.1:g.29484_29485del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000205402.10:c.803_804del MANE Select | ENSP00000205402.3:p.Gln268ArgfsTer3 | |
| ENST00000205402.9:c.803_804del | ENSP00000205402.3:p.Gln268ArgfsTer3 | |
| ENST00000415325.5:c.*477_*478del | ENSP00000402593.1:n.*477_*478del | |
| ENST00000417551.5:c.803_804del | ENSP00000390667.1:p.Gln268ArgfsTer3 | |
| ENST00000437604.6:c.659_660del | ENSP00000387542.2:p.Gln220ArgfsTer3 | |
| ENST00000440410.5:c.734_735del | ENSP00000417016.1:p.Gln245ArgfsTer3 | |
| NM_000108.4:c.803_804del | NP_000099.2:p.Gln268ArgfsTer3 | |
| NM_001289750.1:c.506_507del | NP_001276679.1:p.Gln169ArgfsTer3 | |
| NM_001289751.1:c.734_735del | NP_001276680.1:p.Gln245ArgfsTer3 | |
| NM_001289752.1:c.659_660del | NP_001276681.1:p.Gln220ArgfsTer3 | |
| NM_000108.5:c.803_804del MANE Select | NP_000099.2:p.Gln268ArgfsTer3 |