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:
936390
ClinVar RCV Id:
RCV001205178
dbSNP Id:
rs2092905845
gnomAD v4:
17-42536320-C-CGGGGCCGGGGGCGCGGCAGGCGACG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536321_42536345dup , CM000679.2:g.42536321_42536345dup | GRCh38 |
| NC_000017.10:g.40688339_40688363dup , CM000679.1:g.40688339_40688363dup | GRCh37 |
| NC_000017.9:g.37941865_37941889dup | NCBI36 |
| NG_011552.1:g.5389_5413dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225927.7:c.49_73dup MANE Select | ENSP00000225927.1:p.Glu25GlyfsTer? | |
| ENST00000225927.6:c.49_73dup | ENSP00000225927.1:p.Glu25GlyfsTer? | |
| NM_000263.3:c.49_73dup | NP_000254.2:p.Glu25GlyfsTer? | |
| XM_024450771.1:c.49_73dup | XP_024306539.1:p.Glu25GlyfsTer? | |
| NM_000263.4:c.49_73dup MANE Select | NP_000254.2:p.Glu25GlyfsTer? |