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:
rs562673925
gnomAD v2:
6-1610250-G-GCCCC
gnomAD v3:
6-1610015-G-GCCCC
gnomAD v4:
6-1610015-G-GCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610026_1610029dup , CM000668.2:g.1610026_1610029dup | GRCh38 |
| NC_000006.11:g.1610261_1610264dup , CM000668.1:g.1610261_1610264dup | GRCh37 |
| NC_000006.10:g.1555260_1555263dup | NCBI36 |
| NG_009368.1:g.4581_4584dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645831.2:c.-420_-417dup MANE Select | ENSP00000493906.1:n.-420_-417dup | |
| ENST00000380874.3:c.-420_-417dup | ENSP00000370256.2:n.-420_-417dup | |
| NM_001453.3:c.-420_-417dup MANE Select | NP_001444.2:n.-420_-417dup |