Canonical Allele Identifier: CA2122483006

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409725_21409726delinsAT , CM000676.2:g.21409725_21409726delinsAT	GRCh38
NC_000014.8:g.21877884_21877885delinsAT , CM000676.1:g.21877884_21877885delinsAT	GRCh37
NC_000014.7:g.20947724_20947725delinsAT	NCBI36
NG_021249.1:g.32573_32574delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1527+125_1527+126delinsAT	ENSP00000406288.3:n.1527+125_1527+126delinsAT
ENST00000555935.2:c.40+125_40+126delinsAT
ENST00000555962.6:c.-110-6684_-110-6683delinsAT	ENSP00000495174.1:n.-110-6684_-110-6683delinsAT
ENST00000557364.6:c.2364+125_2364+126delinsAT	ENSP00000451601.1:n.2364+125_2364+126delinsAT
ENST00000643469.1:c.2364+125_2364+126delinsAT	ENSP00000495070.1:n.2364+125_2364+126delinsAT
ENST00000645140.1:c.2276+125_2276+126delinsAT
ENST00000645206.1:n.878+125_878+126delinsAT
ENST00000645929.1:c.1527+125_1527+126delinsAT	ENSP00000494402.1:n.1527+125_1527+126delinsAT
ENST00000646340.1:c.2370+125_2370+126delinsAT	ENSP00000496730.1:n.2370+125_2370+126delinsAT
ENST00000646647.2:c.2364+125_2364+126delinsAT MANE Select	ENSP00000495240.1:n.2364+125_2364+126delinsAT
ENST00000399982.6:c.2364+125_2364+126delinsAT	ENSP00000382863.2:n.2364+125_2364+126delinsAT
ENST00000430710.7:c.1527+125_1527+126delinsAT	ENSP00000406288.3:n.1527+125_1527+126delinsAT
ENST00000554384.1:n.232+125_232+126delinsAT
ENST00000555935.1:c.40+125_40+126delinsAT
ENST00000555962.5:n.151-6684_151-6683delinsAT
ENST00000557364.5:c.2364+125_2364+126delinsAT	ENSP00000451601.1:n.2364+125_2364+126delinsAT
NM_001170629.1:c.2364+125_2364+126delinsAT	NP_001164100.1:n.2364+125_2364+126delinsAT
NM_020920.3:c.1527+125_1527+126delinsAT	NP_065971.2:n.1527+125_1527+126delinsAT
NM_001170629.2:c.2364+125_2364+126delinsAT MANE Select	NP_001164100.1:n.2364+125_2364+126delinsAT
NM_020920.4:c.1527+125_1527+126delinsAT	NP_065971.2:n.1527+125_1527+126delinsAT