Canonical Allele Identifier: CA2695219093

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405722del , CM000676.2:g.21405722del	GRCh38
NC_000014.8:g.21873881del , CM000676.1:g.21873881del	GRCh37
NC_000014.7:g.20943721del	NCBI36
NG_021249.1:g.36577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2213del	ENSP00000406288.3:p.Gln738ArgfsTer12
ENST00000555935.2:c.726del
ENST00000555962.6:c.-110-2680del	ENSP00000495174.1:n.-110-2680del
ENST00000557364.6:c.3050del	ENSP00000451601.1:p.Gln1017ArgfsTer12
ENST00000643469.1:c.3050del	ENSP00000495070.1:p.Gln1017ArgfsTer12
ENST00000645140.1:c.2962del
ENST00000645206.1:n.1564del
ENST00000645929.1:c.2213del	ENSP00000494402.1:p.Gln738ArgfsTer12
ENST00000646340.1:c.3056del	ENSP00000496730.1:p.Gln1019ArgfsTer12
ENST00000646647.2:c.3050del MANE Select	ENSP00000495240.1:p.Gln1017ArgfsTer12
ENST00000399982.6:c.3050del	ENSP00000382863.2:p.Gln1017ArgfsTer12
ENST00000430710.7:c.2213del	ENSP00000406288.3:p.Gln738ArgfsTer12
ENST00000555935.1:c.726del
ENST00000555962.5:n.151-2680del
ENST00000557364.5:c.3050del	ENSP00000451601.1:p.Gln1017ArgfsTer12
NM_001170629.1:c.3050del	NP_001164100.1:p.Gln1017ArgfsTer12
NM_020920.3:c.2213del	NP_065971.2:p.Gln738ArgfsTer12
NM_001170629.2:c.3050del MANE Select	NP_001164100.1:p.Gln1017ArgfsTer12
NM_020920.4:c.2213del	NP_065971.2:p.Gln738ArgfsTer12