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:
355572
ClinVar RCV Id:
RCV000393617
dbSNP Id:
rs886061131
gnomAD v4:
6-143450891-G-GTC
MyVariant Identifiers:
chr6:g.143772032_143772033dupCT (hg19)
chr6:g.143450895_143450896dupCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143450895_143450896dup , CM000668.2:g.143450895_143450896dup | GRCh38 |
| NC_000006.11:g.143772032_143772033dup , CM000668.1:g.143772032_143772033dup | GRCh37 |
| NC_000006.10:g.143813725_143813726dup | NCBI36 |
| NG_008459.1:g.5115_5116dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367591.5:c.-148_-147dup MANE Select | ENSP00000356563.4:n.-148_-147dup | |
| ENST00000367592.5:c.-148_-147dup | ENSP00000356564.1:n.-148_-147dup | |
| NM_003630.2:c.-148_-147dup | NP_003621.1:n.-148_-147dup | |
| NM_003630.3:c.-148_-147dup MANE Select | NP_003621.1:n.-148_-147dup |