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:
2046608
ClinVar RCV Id:
RCV002913770
dbSNP Id:
rs763675296
ExAC:
15:48760587 TGAA / T
gnomAD v2:
15-48760587-TGAA-T
gnomAD v4:
15-48468390-TGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48468391_48468393del , CM000677.2:g.48468391_48468393del | GRCh38 |
| NC_000015.9:g.48760588_48760590del , CM000677.1:g.48760588_48760590del | GRCh37 |
| NC_000015.8:g.46547880_46547882del | NCBI36 |
| NG_008805.2:g.182396_182398del , LRG_778:g.182396_182398del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.4582+19_4582+21del | ENSP00000453958.2:n.4582+19_4582+21del | |
| ENST00000674301.2:c.4582+19_4582+21del | ENSP00000501333.2:n.4582+19_4582+21del | |
| ENST00000684448.1:n.3256+19_3256+21del | ||
| ENST00000316623.10:c.4582+19_4582+21del MANE Select | ENSP00000325527.5:n.4582+19_4582+21del | |
| ENST00000316623.9:c.4582+19_4582+21del | ENSP00000325527.5:n.4582+19_4582+21del | |
| ENST00000537463.6:c.*345+19_*345+21del | ENSP00000440294.2:n.*345+19_*345+21del | |
| NM_000138.4:c.4582+19_4582+21del , LRG_778t1:c.4582+19_4582+21del | NP_000129.3:n.4582+19_4582+21del | |
| NM_000138.5:c.4582+19_4582+21del MANE Select | NP_000129.3:n.4582+19_4582+21del |