Canonical Allele Identifier: CA2122483039

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409756_21409759delinsCATA , CM000676.2:g.21409756_21409759delinsCATA	GRCh38
NC_000014.8:g.21877915_21877918delinsCATA , CM000676.1:g.21877915_21877918delinsCATA	GRCh37
NC_000014.7:g.20947755_20947758delinsCATA	NCBI36
NG_021249.1:g.32540_32543delinsTATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1527+92_1527+95delinsTATG	ENSP00000406288.3:n.1527+92_1527+95delins...
ENST00000555935.2:c.40+92_40+95delinsTATG
ENST00000555962.6:c.-110-6717_-110-6714delinsTATG	ENSP00000495174.1:n.-110-6717_-110-6714de...
ENST00000557364.6:c.2364+92_2364+95delinsTATG	ENSP00000451601.1:n.2364+92_2364+95delins...
ENST00000643469.1:c.2364+92_2364+95delinsTATG	ENSP00000495070.1:n.2364+92_2364+95delins...
ENST00000645140.1:c.2276+92_2276+95delinsTATG
ENST00000645206.1:n.878+92_878+95delinsTATG
ENST00000645929.1:c.1527+92_1527+95delinsTATG	ENSP00000494402.1:n.1527+92_1527+95delins...
ENST00000646340.1:c.2370+92_2370+95delinsTATG	ENSP00000496730.1:n.2370+92_2370+95delins...
ENST00000646647.2:c.2364+92_2364+95delinsTATG MANE Select	ENSP00000495240.1:n.2364+92_2364+95delins...
ENST00000399982.6:c.2364+92_2364+95delinsTATG	ENSP00000382863.2:n.2364+92_2364+95delins...
ENST00000430710.7:c.1527+92_1527+95delinsTATG	ENSP00000406288.3:n.1527+92_1527+95delins...
ENST00000554384.1:n.232+92_232+95delinsTATG
ENST00000555935.1:c.40+92_40+95delinsTATG
ENST00000555962.5:n.151-6717_151-6714delinsTATG
ENST00000557364.5:c.2364+92_2364+95delinsTATG	ENSP00000451601.1:n.2364+92_2364+95delins...
NM_001170629.1:c.2364+92_2364+95delinsTATG	NP_001164100.1:n.2364+92_2364+95delinsTAT...
NM_020920.3:c.1527+92_1527+95delinsTATG	NP_065971.2:n.1527+92_1527+95delinsTATG
NM_001170629.2:c.2364+92_2364+95delinsTATG MANE Select	NP_001164100.1:n.2364+92_2364+95delinsTAT...
NM_020920.4:c.1527+92_1527+95delinsTATG	NP_065971.2:n.1527+92_1527+95delinsTATG