Canonical Allele Identifier: CA7090586

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21390921del , CM000676.2:g.21390921del	GRCh38
NC_000014.8:g.21859080del , CM000676.1:g.21859080del	GRCh37
NC_000014.7:g.20928920del	NCBI36
NG_021249.1:g.51378del

Transcript Alleles

HGVS	Amino-acid Change
NM_001170629.2:c.7182+26del MANE Select	NP_001164100.1:n.7182+26del
ENST00000646647.2:c.7182+26del MANE Select	ENSP00000495240.1:n.7182+26del
NM_001170629.1:c.7182+26del	NP_001164100.1:n.7182+26del
NM_020920.3:c.6345+26del	NP_065971.2:n.6345+26del
NM_020920.4:c.6345+26del	NP_065971.2:n.6345+26del
ENST00000399982.6:c.7182+26del	ENSP00000382863.2:n.7182+26del
ENST00000430710.7:c.6345+26del	ENSP00000406288.3:n.6345+26del
ENST00000430710.8:c.6345+26del	ENSP00000406288.3:n.6345+26del
ENST00000553870.1:c.513+26del	ENSP00000451071.1:n.513+26del
ENST00000553870.2:c.554+26del
ENST00000555935.2:c.4882+26del
ENST00000557364.5:c.7182+26del	ENSP00000451601.1:n.7182+26del
ENST00000557364.6:c.7182+26del	ENSP00000451601.1:n.7182+26del
ENST00000643469.1:c.7182+26del	ENSP00000495070.1:n.7182+26del
ENST00000645206.1:n.6338+26del
ENST00000645929.1:c.6345+26del	ENSP00000494402.1:n.6345+26del
XR_001750627.1:n.622-489del