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_000021.9:g.35301234_35301237delinsATGC , CM000683.2:g.35301234_35301237delinsATGC	GRCh38
NC_000021.8:g.36673532_36673535delinsATGC , CM000683.1:g.36673532_36673535delinsATGC	GRCh37
NC_000021.7:g.35595402_35595405delinsATGC	NCBI36
NG_011402.2:g.688474_688477delinsGCAT , LRG_482:g.688474_688477delinsGCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000475045.6:c.-197+160724_-197+160727delinsGCAT	ENSP00000477072.1:n.-197+160724_-197+1607...