Canonical Allele Identifier: CA2575477595

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415532_21415533insGTAA , CM000676.2:g.21415532_21415533insGTAA	GRCh38
NC_000014.8:g.21883691_21883692insGTAA , CM000676.1:g.21883691_21883692insGTAA	GRCh37
NC_000014.7:g.20953531_20953532insGTAA	NCBI36
NG_021249.1:g.26769_26770insCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+44_1131+45insCTTA	ENSP00000406288.3:n.1131+44_1131+45insCTTA
ENST00000555962.6:c.-110-12488_-110-12487insCTTA	ENSP00000495174.1:n.-110-12488_-110-12487insCTTA
ENST00000557364.6:c.1968+44_1968+45insCTTA	ENSP00000451601.1:n.1968+44_1968+45insCTTA
ENST00000642914.1:n.995_996insCTTA
ENST00000643469.1:c.1968+44_1968+45insCTTA	ENSP00000495070.1:n.1968+44_1968+45insCTTA
ENST00000645140.1:c.1880+44_1880+45insCTTA
ENST00000645206.1:n.482+44_482+45insCTTA
ENST00000645929.1:c.1131+44_1131+45insCTTA	ENSP00000494402.1:n.1131+44_1131+45insCTTA
ENST00000646340.1:c.1974+44_1974+45insCTTA	ENSP00000496730.1:n.1974+44_1974+45insCTTA
ENST00000646647.2:c.1968+44_1968+45insCTTA MANE Select	ENSP00000495240.1:n.1968+44_1968+45insCTTA
ENST00000399982.6:c.1968+44_1968+45insCTTA	ENSP00000382863.2:n.1968+44_1968+45insCTTA
ENST00000430710.7:c.1131+44_1131+45insCTTA	ENSP00000406288.3:n.1131+44_1131+45insCTTA
ENST00000555962.5:n.151-12488_151-12487insCTTA
ENST00000557364.5:c.1968+44_1968+45insCTTA	ENSP00000451601.1:n.1968+44_1968+45insCTTA
NM_001170629.1:c.1968+44_1968+45insCTTA	NP_001164100.1:n.1968+44_1968+45insCTTA
NM_020920.3:c.1131+44_1131+45insCTTA	NP_065971.2:n.1131+44_1131+45insCTTA
NM_001170629.2:c.1968+44_1968+45insCTTA MANE Select	NP_001164100.1:n.1968+44_1968+45insCTTA
NM_020920.4:c.1131+44_1131+45insCTTA	NP_065971.2:n.1131+44_1131+45insCTTA