Canonical Allele Identifier: CA527133902

Gene: ITLN1

Linked Data

• dbSNP Id: rs1348585896
• gnomAD v2: 1-160851837-GC-G
• gnomAD v4: 1-160882047-GC-G
• MyVariant Identifiers: chr1:g.160851838del (hg19) ; chr1:g.160882048del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160882050del , CM000663.2:g.160882050del	GRCh38
NC_000001.10:g.160851840del , CM000663.1:g.160851840del	GRCh37
NC_000001.9:g.159118464del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326245.4:c.314del MANE Select	ENSP00000323587.3:p.Gly105AlafsTer?
ENST00000326245.3:c.314del	ENSP00000323587.3:p.Gly105AlafsTer?
ENST00000464077.1:n.248del
NM_017625.2:c.314del	NP_060095.2:p.Gly105AlafsTer?
NM_017625.3:c.314del MANE Select	NP_060095.2:p.Gly105AlafsTer?