UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Canonical Allele Identifier:
CA782126315
Gene:
Linked Data
dbSNP Id:
rs1313789600
gnomAD v3:
18-71698005-T-TCCA
gnomAD v4:
18-71698005-T-TCCA
MyVariant Identifiers:
chr18:g.69365241_69365242insCCA (hg19)
chr18:g.71698005_71698006insCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.71698007_71698009dup , CM000680.2:g.71698007_71698009dup | GRCh38 |
| NC_000018.9:g.69365243_69365245dup , CM000680.1:g.69365243_69365245dup | GRCh37 |
| NC_000018.8:g.67516223_67516225dup | NCBI36 |