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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:
CA2627714451
Gene: SPRED1
HGNC
NCBI
Linked Data
gnomAD v4:
15-38253178-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.38253181del , CM000677.2:g.38253181del
GRCh38
NC_000015.9:g.38545382del , CM000677.1:g.38545382del
GRCh37
NC_000015.8:g.36332674del
NCBI36
NG_008980.1:g.5331del
Transcript Alleles
HGVS
Amino-acid change
ENST00000299084.9:c.-5del
MANE Select
ENSP00000299084.4:n.-5del
ENST00000299084.8:c.-5del
ENSP00000299084.4:n.-5del
ENST00000561205.1:n.334del
NM_152594.2:c.-5del
NP_689807.1:n.-5del
XM_005254202.2:c.-5del
XP_005254259.1:n.-5del
XM_005254203.3:c.-52del
XP_005254260.1:n.-52del
XM_005254202.3:c.-5del
XP_005254259.1:n.-5del
XR_001751484.1:n.87+388del
NM_152594.3:c.-5del
MANE Select
NP_689807.1:n.-5del
Search 100 bp 5'
Search 100 bp 3'