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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:
CA2682437874
Gene: SFRP4
HGNC
NCBI
EPDR1
HGNC
NCBI
Linked Data
gnomAD v4:
7-37906774-CA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.37906780del , CM000669.2:g.37906780del
GRCh38
NC_000007.13:g.37946382del , CM000669.1:g.37946382del
GRCh37
NC_000007.12:g.37912907del
NCBI36
NG_052980.1:g.15149del
Transcript Alleles
HGVS
Amino-acid change
ENST00000436072.7:c.*704del
(SFRP4)
MANE Select
ENSP00000410715.2:n.*704del
ENST00000436072.6:c.*704del
(SFRP4)
ENSP00000410715.2:n.*704del
ENST00000476620.1:c.-37-42060del
(EPDR1)
ENSP00000425858.1:n.-37-42060del
NM_003014.3:c.*704del
(SFRP4)
NP_003005.2:n.*704del
NM_003014.4:c.*704del
(SFRP4)
MANE Select
NP_003005.2:n.*704del
Search 100 bp 5'
Search 100 bp 3'