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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
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Canonical Allele Identifier:
CA2746359229
Gene: ITLN1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.160882306del , CM000663.2:g.160882306del
GRCh38
NC_000001.10:g.160852096del , CM000663.1:g.160852096del
GRCh37
NC_000001.9:g.159118720del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000326245.4:c.158-101del
MANE Select
ENSP00000323587.3:n.158-101del
ENST00000326245.3:c.158-101del
ENSP00000323587.3:n.158-101del
NM_017625.2:c.158-101del
NP_060095.2:n.158-101del
NM_017625.3:c.158-101del
MANE Select
NP_060095.2:n.158-101del
Search 100 bp 5'
Search 100 bp 3'