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.31872662_31872663del , CM000675.2:g.31872662_31872663del	GRCh38
NC_000013.10:g.32446799_32446800del , CM000675.1:g.32446799_32446800del	GRCh37
NC_000013.9:g.31344799_31344800del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645780.1:c.-254+25723_-254+25724del (FRY)	ENSP00000494080.1:n.-254+25723_-254+25724del
ENST00000428783.1:n.99+25723_99+25724del (EEF1DP3)
NR_027062.1:n.157+25723_157+25724del (EEF1DP3)