×
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.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2082579299
Gene: FRY
HGNC
NCBI
EEF1DP3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1868416678
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.31872741del , CM000675.2:g.31872741del
GRCh38
NC_000013.10:g.32446878del , CM000675.1:g.32446878del
GRCh37
NC_000013.9:g.31344878del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000645780.1:c.-254+25802del
(FRY)
ENSP00000494080.1:n.-254+25802del
ENST00000428783.1:n.99+25802del
(EEF1DP3)
NR_027062.1:n.157+25802del
(EEF1DP3)
Search 100 bp 5'
Search 100 bp 3'