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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:
CA2648717372
Gene: ITLN1
HGNC
NCBI
Linked Data
gnomAD v4:
1-160882243-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.160882244del , CM000663.2:g.160882244del
GRCh38
NC_000001.10:g.160852034del , CM000663.1:g.160852034del
GRCh37
NC_000001.9:g.159118658del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000326245.4:c.158-40del
MANE Select
ENSP00000323587.3:n.158-40del
ENST00000326245.3:c.158-40del
ENSP00000323587.3:n.158-40del
ENST00000464077.1:n.52del
NM_017625.2:c.158-40del
NP_060095.2:n.158-40del
NM_017625.3:c.158-40del
MANE Select
NP_060095.2:n.158-40del
Search 100 bp 5'
Search 100 bp 3'