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_000007.14:g.41772134_41772135delinsAC , CM000669.2:g.41772134_41772135delinsAC	GRCh38
NC_000007.13:g.41811732_41811733delinsAC , CM000669.1:g.41811732_41811733delinsAC	GRCh37
NC_000007.12:g.41778257_41778258delinsAC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_027118.1:n.359-762_359-761delinsAC
NR_027118.2:n.356-762_356-761delinsAC
XR_001745185.1:n.964+36420_964+36421delinsAC
XR_001745186.1:n.954+36430_954+36431delinsAC