Canonical Allele Identifier: CA2122489091

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415533_21415534delinsAT , CM000676.2:g.21415533_21415534delinsAT	GRCh38
NC_000014.8:g.21883692_21883693delinsAT , CM000676.1:g.21883692_21883693delinsAT	GRCh37
NC_000014.7:g.20953532_20953533delinsAT	NCBI36
NG_021249.1:g.26765_26766delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+40_1131+41delinsAT	ENSP00000406288.3:n.1131+40_1131+41delinsAT
ENST00000555962.6:c.-110-12492_-110-12491delinsAT	ENSP00000495174.1:n.-110-12492_-110-12491delinsAT
ENST00000557364.6:c.1968+40_1968+41delinsAT	ENSP00000451601.1:n.1968+40_1968+41delinsAT
ENST00000642914.1:n.991_992delinsAT
ENST00000643469.1:c.1968+40_1968+41delinsAT	ENSP00000495070.1:n.1968+40_1968+41delinsAT
ENST00000645140.1:c.1880+40_1880+41delinsAT
ENST00000645206.1:n.482+40_482+41delinsAT
ENST00000645929.1:c.1131+40_1131+41delinsAT	ENSP00000494402.1:n.1131+40_1131+41delinsAT
ENST00000646340.1:c.1974+40_1974+41delinsAT	ENSP00000496730.1:n.1974+40_1974+41delinsAT
ENST00000646647.2:c.1968+40_1968+41delinsAT MANE Select	ENSP00000495240.1:n.1968+40_1968+41delinsAT
ENST00000399982.6:c.1968+40_1968+41delinsAT	ENSP00000382863.2:n.1968+40_1968+41delinsAT
ENST00000430710.7:c.1131+40_1131+41delinsAT	ENSP00000406288.3:n.1131+40_1131+41delinsAT
ENST00000555962.5:n.151-12492_151-12491delinsAT
ENST00000557364.5:c.1968+40_1968+41delinsAT	ENSP00000451601.1:n.1968+40_1968+41delinsAT
NM_001170629.1:c.1968+40_1968+41delinsAT	NP_001164100.1:n.1968+40_1968+41delinsAT
NM_020920.3:c.1131+40_1131+41delinsAT	NP_065971.2:n.1131+40_1131+41delinsAT
NM_001170629.2:c.1968+40_1968+41delinsAT MANE Select	NP_001164100.1:n.1968+40_1968+41delinsAT
NM_020920.4:c.1131+40_1131+41delinsAT	NP_065971.2:n.1131+40_1131+41delinsAT