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:
371491
dbSNP Id:
rs1057517315
gnomAD v4:
3-81705468-CT-C
PubMed:
PMID:21917543
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705470del , CM000665.2:g.81705470del | GRCh38 |
| NC_000003.11:g.81754621del , CM000665.1:g.81754621del | GRCh37 |
| NC_000003.10:g.81837311del | NCBI36 |
| NG_011810.1:g.61332del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429644.7:c.288del MANE Select | ENSP00000410833.2:p.Gly97GlufsTer? | |
| ENST00000429644.6:c.288del | ENSP00000410833.2:p.Gly97GlufsTer? | |
| ENST00000489715.1:c.165del | ENSP00000419638.1:p.Gly56GlufsTer? | |
| NM_000158.3:c.288del | NP_000149.3:p.Gly97GlufsTer? | |
| NM_000158.4:c.288del MANE Select | NP_000149.4:p.Gly97GlufsTer? |