Canonical Allele Identifier: CA2575477605

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415585_21415586del , CM000676.2:g.21415585_21415586del	GRCh38
NC_000014.8:g.21883744_21883745del , CM000676.1:g.21883744_21883745del	GRCh37
NC_000014.7:g.20953584_20953585del	NCBI36
NG_021249.1:g.26715_26716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1121_1122del	ENSP00000406288.3:p.Val374GlufsTer11
ENST00000555962.6:c.-110-12542_-110-12541del	ENSP00000495174.1:n.-110-12542_-110-12541del
ENST00000557364.6:c.1958_1959del	ENSP00000451601.1:p.Val653GlufsTer11
ENST00000642914.1:n.941_942del
ENST00000643469.1:c.1958_1959del	ENSP00000495070.1:p.Val653GlufsTer11
ENST00000645140.1:c.1870_1871del
ENST00000645206.1:n.472_473del
ENST00000645929.1:c.1121_1122del	ENSP00000494402.1:p.Val374GlufsTer11
ENST00000646340.1:c.1964_1965del	ENSP00000496730.1:p.Val655GlufsTer11
ENST00000646647.2:c.1958_1959del MANE Select	ENSP00000495240.1:p.Val653GlufsTer11
ENST00000399982.6:c.1958_1959del	ENSP00000382863.2:p.Val653GlufsTer11
ENST00000430710.7:c.1121_1122del	ENSP00000406288.3:p.Val374GlufsTer11
ENST00000555962.5:n.151-12542_151-12541del
ENST00000557364.5:c.1958_1959del	ENSP00000451601.1:p.Val653GlufsTer11
NM_001170629.1:c.1958_1959del	NP_001164100.1:p.Val653GlufsTer11
NM_020920.3:c.1121_1122del	NP_065971.2:p.Val374GlufsTer11
NM_001170629.2:c.1958_1959del MANE Select	NP_001164100.1:p.Val653GlufsTer11
NM_020920.4:c.1121_1122del	NP_065971.2:p.Val374GlufsTer11