Canonical Allele Identifier: CA527133915

Gene: ITLN1

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)

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?