Canonical Allele Identifier: CA2729177862

Gene: CHD8

Linked Data

• dbSNP Id: rs2139498816

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415523_21415524insTATA , CM000676.2:g.21415523_21415524insTATA	GRCh38
NC_000014.8:g.21883682_21883683insTATA , CM000676.1:g.21883682_21883683insTATA	GRCh37
NC_000014.7:g.20953522_20953523insTATA	NCBI36
NG_021249.1:g.26778_26779insATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+53_1131+54insATAT	ENSP00000406288.3:n.1131+53_1131+54insATAT
ENST00000555962.6:c.-110-12479_-110-12478insATAT	ENSP00000495174.1:n.-110-12479_-110-12478insATAT
ENST00000557364.6:c.1968+53_1968+54insATAT	ENSP00000451601.1:n.1968+53_1968+54insATAT
ENST00000642914.1:n.1004_1005insATAT
ENST00000643469.1:c.1968+53_1968+54insATAT	ENSP00000495070.1:n.1968+53_1968+54insATAT
ENST00000645140.1:c.1880+53_1880+54insATAT
ENST00000645206.1:n.482+53_482+54insATAT
ENST00000645929.1:c.1131+53_1131+54insATAT	ENSP00000494402.1:n.1131+53_1131+54insATAT
ENST00000646340.1:c.1974+53_1974+54insATAT	ENSP00000496730.1:n.1974+53_1974+54insATAT
ENST00000646647.2:c.1968+53_1968+54insATAT MANE Select	ENSP00000495240.1:n.1968+53_1968+54insATAT
ENST00000399982.6:c.1968+53_1968+54insATAT	ENSP00000382863.2:n.1968+53_1968+54insATAT
ENST00000430710.7:c.1131+53_1131+54insATAT	ENSP00000406288.3:n.1131+53_1131+54insATAT
ENST00000555962.5:n.151-12479_151-12478insATAT
ENST00000557364.5:c.1968+53_1968+54insATAT	ENSP00000451601.1:n.1968+53_1968+54insATAT
NM_001170629.1:c.1968+53_1968+54insATAT	NP_001164100.1:n.1968+53_1968+54insATAT
NM_020920.3:c.1131+53_1131+54insATAT	NP_065971.2:n.1131+53_1131+54insATAT
NM_001170629.2:c.1968+53_1968+54insATAT MANE Select	NP_001164100.1:n.1968+53_1968+54insATAT
NM_020920.4:c.1131+53_1131+54insATAT	NP_065971.2:n.1131+53_1131+54insATAT