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
dbSNP Id:
rs397731996
gnomAD v2:
9-137735022-A-AGGG
gnomAD v3:
9-134843176-A-AGGG
gnomAD v4:
9-134843176-A-AGGG
MyVariant Identifiers:
chr9:g.137735022_137735023insGGG (hg19)
chr9:g.134843176_134843177insGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134843176_134843177insGGG , CM000671.2:g.134843176_134843177insGGG | GRCh38 |
| NC_000009.11:g.137735022_137735023insGGG , CM000671.1:g.137735022_137735023insGGG | GRCh37 |
| NC_000009.10:g.136874843_136874844insGGG | NCBI36 |
| NG_008030.1:g.206371_206372insGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371820.4:c.*873_*874insGGG | ENSP00000360885.4:n.*873_*874insGGG | |
| ENST00000371817.8:c.*873_*874insGGG MANE Select | ENSP00000360882.3:n.*873_*874insGGG | |
| ENST00000371817.7:c.*873_*874insGGG | ENSP00000360882.3:n.*873_*874insGGG | |
| ENST00000618395.4:c.*873_*874insGGG | ENSP00000481360.1:n.*873_*874insGGG | |
| NM_000093.4:c.*873_*874insGGG | NP_000084.3:n.*873_*874insGGG | |
| NM_001278074.1:c.*873_*874insGGG | NP_001265003.1:n.*873_*874insGGG | |
| NR_103451.2:n.71-22968_71-22967insCCC | ||
| NM_000093.5:c.*873_*874insGGG MANE Select | NP_000084.3:n.*873_*874insGGG |