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.202743_202798delinsTGGGGTGAATGAGGGAAGGGGCAGGGTTTACAGCACCTGTGCTCATGGCCAGCCAC , CM000673.2:g.202743_202798delinsTGGGGTGAATGAGGGAAGGGGCAGGGTTTACAGCACCTGTGCTCATGGCCAGCCAC	GRCh38
NC_000011.9:g.202743_202798delinsTGGGGTGAATGAGGGAAGGGGCAGGGTTTACAGCACCTGTGCTCATGGCCAGCCAC , CM000673.1:g.202743_202798delinsTGGGGTGAATGAGGGAAGGGGCAGGGTTTACAGCACCTGTGCTCATGGCCAGCCAC	GRCh37
NC_000011.8:g.192743_192798delinsTGGGGTGAATGAGGGAAGGGGCAGGGTTTACAGCACCTGTGCTCATGGCCAGCCAC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000410108.5:c.168+2813_168+2868delinsGTGGCTGGCCATGAGCACAGGTGCTGTAAACCCTGCCCCTTCCCTCATTCACCCCA	ENSP00000386558.1:n.168+2813_168+2868deli...