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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:
CA2584994747
Gene: IFNL4
HGNC
NCBI
Linked Data
gnomAD v4:
19-39247823-CG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.39247826del , CM000681.2:g.39247826del
GRCh38
NC_000019.9:g.39738466del , CM000681.1:g.39738466del
GRCh37
NC_000019.8:g.44430306del
NCBI36
NG_042193.1:g.2148del
NG_055295.1:g.6033del
Transcript Alleles
HGVS
Amino-acid change
ENST00000606380.2:c.251del
ENSP00000476098.1:p.Pro84ArgfsTer?
ENST00000610963.1:c.250del
ENSP00000481371.1:p.Arg84GlyfsTer?
ENST00000616270.4:c.223+100del
ENSP00000480679.1:n.223+100del
ENST00000634680.1:c.152-361del
ENSP00000489240.1:n.152-361del
ENST00000634967.1:c.223+100del
ENSP00000489559.1:n.223+100del
NR_074079.1:n.528del
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