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:
rs1461086084
gnomAD v2:
1-165409006-T-TTAAAATG
gnomAD v3:
1-165439769-T-TTAAAATG
gnomAD v4:
1-165439769-T-TTAAAATG
MyVariant Identifiers:
chr1:g.165409006_165409007insTAAAATG (hg19)
chr1:g.165439769_165439770insTAAAATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165439774_165439780dup , CM000663.2:g.165439774_165439780dup | GRCh38 |
| NC_000001.10:g.165409011_165409017dup , CM000663.1:g.165409011_165409017dup | GRCh37 |
| NC_000001.9:g.163675635_163675641dup | NCBI36 |
| NG_029517.1:g.10580_10586dup | |
| NG_029517.2:g.10580_10586dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359842.10:c.49+5069_49+5075dup MANE Select | ENSP00000352900.5:n.49+5069_49+5075dup | |
| ENST00000359842.9:c.49+5069_49+5075dup | ENSP00000352900.5:n.49+5069_49+5075dup | |
| ENST00000465764.1:n.329-2575_329-2569dup | ||
| ENST00000619224.1:c.-379+5069_-379+5075dup | ENSP00000482458.1:n.-379+5069_-379+5075du... | |
| NM_001256570.1:c.-379+5069_-379+5075dup | NP_001243499.1:n.-379+5069_-379+5075dup | |
| NM_006917.4:c.49+5069_49+5075dup | NP_008848.1:n.49+5069_49+5075dup | |
| NR_033824.1:n.512-2575_512-2569dup | ||
| NM_006917.5:c.49+5069_49+5075dup MANE Select | NP_008848.1:n.49+5069_49+5075dup | |
| NR_033824.2:n.283-2575_283-2569dup | ||
| NM_001256570.2:c.-379+5069_-379+5075dup | NP_001243499.1:n.-379+5069_-379+5075dup |