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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:
CA920107237
Gene: IFNL4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1568554173
gnomAD v4:
19-39247971-G-GC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.39247976dup , CM000681.2:g.39247976dup
GRCh38
NC_000019.9:g.39738616dup , CM000681.1:g.39738616dup
GRCh37
NC_000019.8:g.44430456dup
NCBI36
NG_042193.1:g.2000dup
NG_055295.1:g.5885dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000606380.2:c.175dup
ENSP00000476098.1:p.Ala59GlyfsTer?
ENST00000610963.1:c.174dup
ENSP00000481371.1:p.Gln59AlafsTer?
ENST00000616270.4:c.175dup
ENSP00000480679.1:p.Ala59GlyfsTer?
ENST00000634680.1:c.151+457dup
ENSP00000489240.1:n.151+457dup
ENST00000634967.1:c.175dup
ENSP00000489559.1:p.Ala59GlyfsTer?
NR_074079.1:n.452dup
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