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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
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Canonical Allele Identifier:
CA1700793171
Gene: SFRP4
HGNC
NCBI
EPDR1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1742565604
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.37906677dup , CM000669.2:g.37906677dup
GRCh38
NC_000007.13:g.37946279dup , CM000669.1:g.37946279dup
GRCh37
NC_000007.12:g.37912804dup
NCBI36
NG_052980.1:g.15248dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000436072.7:c.*803dup
(SFRP4)
MANE Select
ENSP00000410715.2:n.*803dup
ENST00000436072.6:c.*803dup
(SFRP4)
ENSP00000410715.2:n.*803dup
ENST00000476620.1:c.-37-42163dup
(EPDR1)
ENSP00000425858.1:n.-37-42163dup
NM_003014.3:c.*803dup
(SFRP4)
NP_003005.2:n.*803dup
NM_003014.4:c.*803dup
(SFRP4)
MANE Select
NP_003005.2:n.*803dup
Search 100 bp 5'
Search 100 bp 3'