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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:
CA1202506349
Gene: ITLN1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1670688937
gnomAD v4:
1-160882082-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.160882083del , CM000663.2:g.160882083del
GRCh38
NC_000001.10:g.160851873del , CM000663.1:g.160851873del
GRCh37
NC_000001.9:g.159118497del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000326245.4:c.279del
MANE Select
ENSP00000323587.3:p.Lys93AsnfsTer?
ENST00000326245.3:c.279del
ENSP00000323587.3:p.Lys93AsnfsTer?
ENST00000464077.1:n.213del
NM_017625.2:c.279del
NP_060095.2:p.Lys93AsnfsTer?
NM_017625.3:c.279del
MANE Select
NP_060095.2:p.Lys93AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'