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:
3061679
ClinVar RCV Id:
RCV003983687
dbSNP Id:
rs71369530
gnomAD v3:
9-97854418-A-AGCCGCC
gnomAD v4:
9-97854418-A-AGCCGCC
MyVariant Identifiers:
chr9:g.100616700_100616701insGCCGCC (hg19)
chr9:g.97854418_97854419insGCCGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854446_97854451dup , CM000671.2:g.97854446_97854451dup | GRCh38 |
| NC_000009.11:g.100616728_100616733dup , CM000671.1:g.100616728_100616733dup | GRCh37 |
| NC_000009.10:g.99656549_99656554dup | NCBI36 |
| NG_011979.1:g.6192_6197dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375123.5:c.532_537dup MANE Select | ENSP00000364265.3:p.Ala179_Ile180insAlaAl... | |
| ENST00000375123.4:c.532_537dup | ENSP00000364265.3:p.Ala179_Ile180insAlaAl... | |
| NM_004473.3:c.532_537dup | NP_004464.2:p.Ala179_Ile180insAlaAla | |
| NM_004473.4:c.532_537dup MANE Select | NP_004464.2:p.Ala179_Ile180insAlaAla |