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.78667884_78667885delinsTC , CM000666.2:g.78667884_78667885delinsTC	GRCh38
NC_000004.11:g.79589038_79589039delinsTC , CM000666.1:g.79589038_79589039delinsTC	GRCh37
NC_000004.10:g.79808062_79808063delinsTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_038303.1:n.473+4873_473+4874delinsTC
NR_038304.1:n.473+4873_473+4874delinsTC
NR_038305.1:n.380-5459_380-5458delinsTC
NR_038306.1:n.380-12877_380-12876delinsTC
NR_038307.1:n.364+4873_364+4874delinsTC
NR_038308.1:n.325+4912_325+4913delinsTC