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.76621179_76621180delinsTA , CM000673.2:g.76621179_76621180delinsTA	GRCh38
NC_000011.9:g.76332223_76332224delinsTA , CM000673.1:g.76332223_76332224delinsTA	GRCh37
NC_000011.8:g.76009871_76009872delinsTA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_247265.2:n.2147+4688_2147+4689delinsTA
XR_950334.1:n.2082+5393_2082+5394delinsTA
XR_001748311.1:n.2245+4688_2245+4689delinsTA
XR_001748312.1:n.1515+4688_1515+4689delinsTA