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:
1068486
ClinVar RCV Id:
RCV001380076
dbSNP Id:
rs2143075344
gnomAD v4:
17-42536320-C-CGGGGCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536326_42536332dup , CM000679.2:g.42536326_42536332dup | GRCh38 |
| NC_000017.10:g.40688344_40688350dup , CM000679.1:g.40688344_40688350dup | GRCh37 |
| NC_000017.9:g.37941870_37941876dup | NCBI36 |
| NG_011552.1:g.5394_5400dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225927.7:c.54_60dup MANE Select | ENSP00000225927.1:p.Ala21ArgfsTer? | |
| ENST00000225927.6:c.54_60dup | ENSP00000225927.1:p.Ala21ArgfsTer? | |
| NM_000263.3:c.54_60dup | NP_000254.2:p.Ala21ArgfsTer? | |
| XM_024450771.1:c.54_60dup | XP_024306539.1:p.Ala21ArgfsTer? | |
| NM_000263.4:c.54_60dup MANE Select | NP_000254.2:p.Ala21ArgfsTer? |