Canonical Allele Identifier: CA2842880071

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409783dup , CM000676.2:g.21409783dup	GRCh38
NC_000014.8:g.21877942dup , CM000676.1:g.21877942dup	GRCh37
NC_000014.7:g.20947782dup	NCBI36
NG_021249.1:g.32521dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1527+73dup	ENSP00000406288.3:n.1527+73dup
ENST00000555935.2:c.40+73dup
ENST00000555962.6:c.-110-6736dup	ENSP00000495174.1:n.-110-6736dup
ENST00000557364.6:c.2364+73dup	ENSP00000451601.1:n.2364+73dup
ENST00000643469.1:c.2364+73dup	ENSP00000495070.1:n.2364+73dup
ENST00000645140.1:c.2276+73dup
ENST00000645206.1:n.878+73dup
ENST00000645929.1:c.1527+73dup	ENSP00000494402.1:n.1527+73dup
ENST00000646340.1:c.2370+73dup	ENSP00000496730.1:n.2370+73dup
ENST00000646647.2:c.2364+73dup MANE Select	ENSP00000495240.1:n.2364+73dup
ENST00000399982.6:c.2364+73dup	ENSP00000382863.2:n.2364+73dup
ENST00000430710.7:c.1527+73dup	ENSP00000406288.3:n.1527+73dup
ENST00000554384.1:n.232+73dup
ENST00000555935.1:c.40+73dup
ENST00000555962.5:n.151-6736dup
ENST00000557364.5:c.2364+73dup	ENSP00000451601.1:n.2364+73dup
NM_001170629.1:c.2364+73dup	NP_001164100.1:n.2364+73dup
NM_020920.3:c.1527+73dup	NP_065971.2:n.1527+73dup
NM_001170629.2:c.2364+73dup MANE Select	NP_001164100.1:n.2364+73dup
NM_020920.4:c.1527+73dup	NP_065971.2:n.1527+73dup