Canonical Allele Identifier: CA2648717340

Gene: ITLN1

Linked Data

• gnomAD v4: 1-160881986-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160881987del , CM000663.2:g.160881987del	GRCh38
NC_000001.10:g.160851777del , CM000663.1:g.160851777del	GRCh37
NC_000001.9:g.159118401del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326245.4:c.375del MANE Select	ENSP00000323587.3:p.Ala126GlnfsTer?
ENST00000326245.3:c.375del	ENSP00000323587.3:p.Ala126GlnfsTer?
ENST00000464077.1:n.309del
NM_017625.2:c.375del	NP_060095.2:p.Ala126GlnfsTer?
NM_017625.3:c.375del MANE Select	NP_060095.2:p.Ala126GlnfsTer?