Canonical Allele Identifier: CA2122495150

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21401071_21401080delinsTCTATGAAGA , CM000676.2:g.21401071_21401080delinsTCTATGAAGA	GRCh38
NC_000014.8:g.21869230_21869239delinsTCTATGAAGA , CM000676.1:g.21869230_21869239delinsTCTATGAAGA	GRCh37
NC_000014.7:g.20939070_20939079delinsTCTATGAAGA	NCBI36
NG_021249.1:g.41219_41228delinsTCTTCATAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.3337-9_3337delinsTCTTCATAGA
ENST00000555935.2:c.1850-9_1850delinsTCTTCATAGA
ENST00000555962.6:c.265-773_265-764delinsTCTTCATAGA	ENSP00000495174.1:n.265-773_265-764delinsTCTTCATAGA
ENST00000557364.6:c.4174-9_4174delinsTCTTCATAGA
ENST00000643469.1:c.4174-9_4174delinsTCTTCATAGA
ENST00000645206.1:n.2688-9_2688delinsTCTTCATAGA
ENST00000645929.1:c.3337-9_3337delinsTCTTCATAGA
ENST00000646340.1:c.4180-9_4180delinsTCTTCATAGA
ENST00000646558.1:n.728-9_728delinsTCTTCATAGA
ENST00000646647.2:c.4174-9_4174delinsTCTTCATAGA
ENST00000399982.6:c.4174-9_4174delinsTCTTCATAGA
ENST00000430710.7:c.3337-9_3337delinsTCTTCATAGA
ENST00000555935.1:c.1850-9_1850delinsTCTTCATAGA
ENST00000555962.5:n.525-773_525-764delinsTCTTCATAGA
ENST00000557364.5:c.4174-9_4174delinsTCTTCATAGA
NM_001170629.1:c.4174-9_4174delinsTCTTCATAGA
NM_020920.3:c.3337-9_3337delinsTCTTCATAGA
NM_001170629.2:c.4174-9_4174delinsTCTTCATAGA
NM_020920.4:c.3337-9_3337delinsTCTTCATAGA