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.78667959_78667961delinsCTA , CM000666.2:g.78667959_78667961delinsCTA	GRCh38
NC_000004.11:g.79589113_79589115delinsCTA , CM000666.1:g.79589113_79589115delinsCTA	GRCh37
NC_000004.10:g.79808137_79808139delinsCTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_038303.1:n.473+4948_473+4950delinsCTA
NR_038304.1:n.473+4948_473+4950delinsCTA
NR_038305.1:n.380-5384_380-5382delinsCTA
NR_038306.1:n.380-12802_380-12800delinsCTA
NR_038307.1:n.364+4948_364+4950delinsCTA
NR_038308.1:n.325+4987_325+4989delinsCTA