×
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:
CA1435753392
Gene: WFS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.6269402_6269404delinsCTT , CM000666.2:g.6269402_6269404delinsCTT
GRCh38
NC_000004.11:g.6271129_6271131delinsCTT , CM000666.1:g.6271129_6271131delinsCTT
GRCh37
NC_000004.10:g.6322030_6322032delinsCTT
NCBI36
NG_011700.1:g.4553_4555delinsCTT
Transcript Alleles
HGVS
Amino-acid change
XM_017008586.1:c.4+7763_4+7765delinsCTT
XP_016864075.1:n.4+7763_4+7765delinsCTT
Search 100 bp 5'
Search 100 bp 3'