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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:
CA2648717436
Gene: ITLN1
HGNC
NCBI
Linked Data
gnomAD v4:
1-160882310-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.160882311del , CM000663.2:g.160882311del
GRCh38
NC_000001.10:g.160852101del , CM000663.1:g.160852101del
GRCh37
NC_000001.9:g.159118725del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000326245.4:c.158-107del
MANE Select
ENSP00000323587.3:n.158-107del
ENST00000326245.3:c.158-107del
ENSP00000323587.3:n.158-107del
NM_017625.2:c.158-107del
NP_060095.2:n.158-107del
NM_017625.3:c.158-107del
MANE Select
NP_060095.2:n.158-107del
Search 100 bp 5'
Search 100 bp 3'