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.78667734_78667735delinsAG , CM000666.2:g.78667734_78667735delinsAG	GRCh38
NC_000004.11:g.79588888_79588889delinsAG , CM000666.1:g.79588888_79588889delinsAG	GRCh37
NC_000004.10:g.79807912_79807913delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_038303.1:n.473+4723_473+4724delinsAG
NR_038304.1:n.473+4723_473+4724delinsAG
NR_038305.1:n.380-5609_380-5608delinsAG
NR_038306.1:n.380-13027_380-13026delinsAG
NR_038307.1:n.364+4723_364+4724delinsAG
NR_038308.1:n.325+4762_325+4763delinsAG