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_000011.10:g.27653965_27653970delinsTACACA , CM000673.2:g.27653965_27653970delinsTACACA	GRCh38
NC_000011.9:g.27675512_27675517delinsTACACA , CM000673.1:g.27675512_27675517delinsTACACA	GRCh37
NC_000011.8:g.27632088_27632093delinsTACACA	NCBI36
NG_011794.1:g.73087_73092delinsTGTGTA

Transcript Alleles

HGVS	Amino-acid change
NR_002832.2:n.375-4276_375-4271delinsTACACA
NR_033312.1:n.306-4276_306-4271delinsTACACA
NR_033313.1:n.306-4276_306-4271delinsTACACA
NR_033314.1:n.375-4276_375-4271delinsTACACA
NR_033315.1:n.306-4276_306-4271delinsTACACA