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:
553858
ClinVar RCV Id:
RCV003767974
dbSNP Id:
rs1555202636
gnomAD v4:
12-76346796-TAG-T
MyVariant Identifiers:
chr12:g.76346797_76346798del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346799_76346800del , CM000674.2:g.76346799_76346800del | GRCh38 |
| NC_000012.11:g.76740579_76740580del , CM000674.1:g.76740579_76740580del | GRCh37 |
| NC_000012.10:g.75264710_75264711del | NCBI36 |
| NG_016357.1:g.6645_6646del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650064.2:c.1187_1188del MANE Select | ENSP00000497413.1:p.Ser396TyrfsTer12 | |
| ENST00000393262.3:c.1187_1188del | ENSP00000376946.3:p.Ser396TyrfsTer12 | |
| NM_024685.3:c.1187_1188del | NP_078961.3:p.Ser396TyrfsTer12 | |
| NM_024685.4:c.1187_1188del MANE Select | NP_078961.3:p.Ser396TyrfsTer12 |