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_000001.11:g.1329973_1329986delinsGCGTGTGCCATGCA , CM000663.2:g.1329973_1329986delinsGCGTGTGCCATGCA	GRCh38
NC_000001.10:g.1265353_1265366delinsGCGTGTGCCATGCA , CM000663.1:g.1265353_1265366delinsGCGTGTGCCATGCA	GRCh37
NC_000001.9:g.1255216_1255229delinsGCGTGTGCCATGCA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011542239.1:c.-1373_-1360delinsGCGTGTGCCATGCA	XP_011540541.1:n.-1373_-1360delinsGCGTGTG...