Canonical Allele Identifier: CA527133914

Gene: ITLN1

Linked Data

• dbSNP Id: rs1185220188
• gnomAD v2: 1-160851856-C-CACTTCCACGCT
• gnomAD v3: 1-160882066-C-CACTTCCACGCT
• gnomAD v4: 1-160882066-C-CACTTCCACGCT
• MyVariant Identifiers: chr1:g.160851856_160851857insACTTCCACGCT (hg19) ; chr1:g.160882066_160882067insACTTCCACGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160882066_160882067insACTTCCACGCT , CM000663.2:g.160882066_160882067insACTTCCACGCT	GRCh38
NC_000001.10:g.160851856_160851857insACTTCCACGCT , CM000663.1:g.160851856_160851857insACTTCCACGCT	GRCh37
NC_000001.9:g.159118480_159118481insACTTCCACGCT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326245.4:c.295_296insAGCGTGGAAGT MANE Select	ENSP00000323587.3:p.Arg99GlnfsTer?
ENST00000326245.3:c.295_296insAGCGTGGAAGT	ENSP00000323587.3:p.Arg99GlnfsTer?
ENST00000464077.1:n.229_230insAGCGTGGAAGT
NM_017625.2:c.295_296insAGCGTGGAAGT	NP_060095.2:p.Arg99GlnfsTer?
NM_017625.3:c.295_296insAGCGTGGAAGT MANE Select	NP_060095.2:p.Arg99GlnfsTer?