Canonical Allele Identifier: CA527133915
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1433406178
gnomAD v2: 1-160851858-A-AC
gnomAD v3: 1-160882068-A-AC
gnomAD v4: 1-160882068-A-AC
MyVariant Identifiers: chr1:g.160851858_160851859insC (hg19) chr1:g.160882068_160882069insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882068_160882069insC , CM000663.2:g.160882068_160882069insC GRCh38
NC_000001.10:g.160851858_160851859insC , CM000663.1:g.160851858_160851859insC GRCh37
NC_000001.9:g.159118482_159118483insC NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000326245.4:c.293_294insG MANE Select ENSP00000323587.3:p.Asp98GlufsTer?
ENST00000326245.3:c.293_294insG ENSP00000323587.3:p.Asp98GlufsTer?
ENST00000464077.1:n.227_228insG
NM_017625.2:c.293_294insG NP_060095.2:p.Asp98GlufsTer?
NM_017625.3:c.293_294insG MANE Select NP_060095.2:p.Asp98GlufsTer?
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