Allele Registry

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.

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78667776_78667777delinsCT , CM000666.2:g.78667776_78667777delinsCT	GRCh38
NC_000004.11:g.79588930_79588931delinsCT , CM000666.1:g.79588930_79588931delinsCT	GRCh37
NC_000004.10:g.79807954_79807955delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_038303.1:n.473+4765_473+4766delinsCT
NR_038304.1:n.473+4765_473+4766delinsCT
NR_038305.1:n.380-5567_380-5566delinsCT
NR_038306.1:n.380-12985_380-12984delinsCT
NR_038307.1:n.364+4765_364+4766delinsCT
NR_038308.1:n.325+4804_325+4805delinsCT