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:
12940
ClinVar RCV Id:
RCV000013803
dbSNP Id:
rs587776777
gnomAD v4:
2-72888453-CAACAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72888457_72888461del , CM000664.2:g.72888457_72888461del | GRCh38 |
| NC_000002.11:g.73115586_73115590del , CM000664.1:g.73115586_73115590del | GRCh37 |
| NC_000002.10:g.72969094_72969098del | NCBI36 |
| NG_008234.1:g.6075_6079del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234454.6:c.448_452del MANE Select | ENSP00000234454.5:p.Thr151GlyfsTer2 | |
| ENST00000234454.5:c.448_452del | ENSP00000234454.5:p.Thr151GlyfsTer2 | |
| ENST00000498749.1:n.393_397del | ||
| NM_003124.4:c.448_452del | NP_003115.1:p.Thr151GlyfsTer2 | |
| NM_003124.5:c.448_452del MANE Select | NP_003115.1:p.Thr151GlyfsTer2 |