Canonical Allele Identifier: CA484986814

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21878141_21878142insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409984dup , CM000676.2:g.21409984dup	GRCh38
NC_000014.8:g.21878143dup , CM000676.1:g.21878143dup	GRCh37
NC_000014.7:g.20947983dup	NCBI36
NG_021249.1:g.32316dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1395dup	ENSP00000406288.3:p.Ile466TyrfsTer13
ENST00000555962.6:c.-110-6941dup	ENSP00000495174.1:n.-110-6941dup
ENST00000557364.6:c.2232dup	ENSP00000451601.1:p.Ile745TyrfsTer13
ENST00000643469.1:c.2232dup	ENSP00000495070.1:p.Ile745TyrfsTer13
ENST00000645140.1:c.2144dup
ENST00000645206.1:n.746dup
ENST00000645929.1:c.1395dup	ENSP00000494402.1:p.Ile466TyrfsTer13
ENST00000646340.1:c.2238dup	ENSP00000496730.1:p.Ile747TyrfsTer13
ENST00000646647.2:c.2232dup MANE Select	ENSP00000495240.1:p.Ile745TyrfsTer13
ENST00000399982.6:c.2232dup	ENSP00000382863.2:p.Ile745TyrfsTer13
ENST00000430710.7:c.1395dup	ENSP00000406288.3:p.Ile466TyrfsTer13
ENST00000554384.1:n.100dup
ENST00000555962.5:n.151-6941dup
ENST00000557364.5:c.2232dup	ENSP00000451601.1:p.Ile745TyrfsTer13
NM_001170629.1:c.2232dup	NP_001164100.1:p.Ile745TyrfsTer13
NM_020920.3:c.1395dup	NP_065971.2:p.Ile466TyrfsTer13
NM_001170629.2:c.2232dup MANE Select	NP_001164100.1:p.Ile745TyrfsTer13
NM_020920.4:c.1395dup	NP_065971.2:p.Ile466TyrfsTer13