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.31872757_31872758delinsGT , CM000675.2:g.31872757_31872758delinsGT	GRCh38
NC_000013.10:g.32446894_32446895delinsGT , CM000675.1:g.32446894_32446895delinsGT	GRCh37
NC_000013.9:g.31344894_31344895delinsGT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645780.1:c.-254+25818_-254+25819delinsGT (FRY)	ENSP00000494080.1:n.-254+25818_-254+25819delinsGT
ENST00000428783.1:n.99+25818_99+25819delinsGT (EEF1DP3)
NR_027062.1:n.157+25818_157+25819delinsGT (EEF1DP3)