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_000013.11:g.31872738_31872739delinsAT , CM000675.2:g.31872738_31872739delinsAT	GRCh38
NC_000013.10:g.32446875_32446876delinsAT , CM000675.1:g.32446875_32446876delinsAT	GRCh37
NC_000013.9:g.31344875_31344876delinsAT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645780.1:c.-254+25799_-254+25800delinsAT (FRY)	ENSP00000494080.1:n.-254+25799_-254+25800delinsAT
ENST00000428783.1:n.99+25799_99+25800delinsAT (EEF1DP3)
NR_027062.1:n.157+25799_157+25800delinsAT (EEF1DP3)