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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:
CA2584994745
Gene: IFNL4
HGNC
NCBI
Linked Data
gnomAD v4:
19-39247819-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.39247823del , CM000681.2:g.39247823del
GRCh38
NC_000019.9:g.39738463del , CM000681.1:g.39738463del
GRCh37
NC_000019.8:g.44430303del
NCBI36
NG_042193.1:g.2152del
NG_055295.1:g.6037del
Transcript Alleles
HGVS
Amino-acid change
ENST00000606380.2:c.255del
ENSP00000476098.1:p.His86IlefsTer?
ENST00000610963.1:c.254del
ENSP00000481371.1:p.Gly85AlafsTer?
ENST00000616270.4:c.223+104del
ENSP00000480679.1:n.223+104del
ENST00000634680.1:c.152-357del
ENSP00000489240.1:n.152-357del
ENST00000634967.1:c.223+104del
ENSP00000489559.1:n.223+104del
NR_074079.1:n.532del
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