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.31872695_31872698delinsCAAG , CM000675.2:g.31872695_31872698delinsCAAG	GRCh38
NC_000013.10:g.32446832_32446835delinsCAAG , CM000675.1:g.32446832_32446835delinsCAAG	GRCh37
NC_000013.9:g.31344832_31344835delinsCAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645780.1:c.-254+25756_-254+25759delinsCAAG (FRY)	ENSP00000494080.1:n.-254+25756_-254+25759delinsCAAG
ENST00000428783.1:n.99+25756_99+25759delinsCAAG (EEF1DP3)
NR_027062.1:n.157+25756_157+25759delinsCAAG (EEF1DP3)