Canonical Allele Identifier: CA2122502611

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21406011_21406012delinsAT , CM000676.2:g.21406011_21406012delinsAT	GRCh38
NC_000014.8:g.21874170_21874171delinsAT , CM000676.1:g.21874170_21874171delinsAT	GRCh37
NC_000014.7:g.20944010_20944011delinsAT	NCBI36
NG_021249.1:g.36287_36288delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2071-148_2071-147delinsAT	ENSP00000406288.3:n.2071-148_2071-147delinsAT
ENST00000555935.2:c.584-148_584-147delinsAT
ENST00000555962.6:c.-110-2970_-110-2969delinsAT	ENSP00000495174.1:n.-110-2970_-110-2969delinsAT
ENST00000557364.6:c.2908-148_2908-147delinsAT	ENSP00000451601.1:n.2908-148_2908-147delinsAT
ENST00000643469.1:c.2908-148_2908-147delinsAT	ENSP00000495070.1:n.2908-148_2908-147delinsAT
ENST00000645140.1:c.2820-148_2820-147delinsAT
ENST00000645206.1:n.1422-148_1422-147delinsAT
ENST00000645929.1:c.2071-148_2071-147delinsAT	ENSP00000494402.1:n.2071-148_2071-147delinsAT
ENST00000646340.1:c.2914-148_2914-147delinsAT	ENSP00000496730.1:n.2914-148_2914-147delinsAT
ENST00000646647.2:c.2908-148_2908-147delinsAT MANE Select	ENSP00000495240.1:n.2908-148_2908-147delinsAT
ENST00000399982.6:c.2908-148_2908-147delinsAT	ENSP00000382863.2:n.2908-148_2908-147delinsAT
ENST00000430710.7:c.2071-148_2071-147delinsAT	ENSP00000406288.3:n.2071-148_2071-147delinsAT
ENST00000555935.1:c.584-148_584-147delinsAT
ENST00000555962.5:n.151-2970_151-2969delinsAT
ENST00000557364.5:c.2908-148_2908-147delinsAT	ENSP00000451601.1:n.2908-148_2908-147delinsAT
NM_001170629.1:c.2908-148_2908-147delinsAT	NP_001164100.1:n.2908-148_2908-147delinsAT
NM_020920.3:c.2071-148_2071-147delinsAT	NP_065971.2:n.2071-148_2071-147delinsAT
NM_001170629.2:c.2908-148_2908-147delinsAT MANE Select	NP_001164100.1:n.2908-148_2908-147delinsAT
NM_020920.4:c.2071-148_2071-147delinsAT	NP_065971.2:n.2071-148_2071-147delinsAT