×
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.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA542649560
Gene:
Linked Data
dbSNP Id:
rs1218593794
gnomAD v2:
3-44087439-G-GA
gnomAD v3:
3-44045947-G-GA
gnomAD v4:
3-44045947-G-GA
MyVariant Identifiers:
chr3:g.44087439_44087440insA (hg19)
chr3:g.44045947_44045948insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.44045953dup , CM000665.2:g.44045953dup
GRCh38
NC_000003.11:g.44087445dup , CM000665.1:g.44087445dup
GRCh37
NC_000003.10:g.44062449dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'