Canonical Allele Identifier: CA960917225

Gene: CHD8

Linked Data

• dbSNP Id: rs1888679728
• gnomAD v3: 14-21415532-A-AATAG
• gnomAD v4: 14-21415532-A-AATAG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415535_21415536insGATA , CM000676.2:g.21415535_21415536insGATA	GRCh38
NC_000014.8:g.21883694_21883695insGATA , CM000676.1:g.21883694_21883695insGATA	GRCh37
NC_000014.7:g.20953534_20953535insGATA	NCBI36
NG_021249.1:g.26766_26767insCTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+41_1131+42insCTAT	ENSP00000406288.3:n.1131+41_1131+42insCTAT
ENST00000555962.6:c.-110-12491_-110-12490insCTAT	ENSP00000495174.1:n.-110-12491_-110-12490insCTAT
ENST00000557364.6:c.1968+41_1968+42insCTAT	ENSP00000451601.1:n.1968+41_1968+42insCTAT
ENST00000642914.1:n.992_993insCTAT
ENST00000643469.1:c.1968+41_1968+42insCTAT	ENSP00000495070.1:n.1968+41_1968+42insCTAT
ENST00000645140.1:c.1880+41_1880+42insCTAT
ENST00000645206.1:n.482+41_482+42insCTAT
ENST00000645929.1:c.1131+41_1131+42insCTAT	ENSP00000494402.1:n.1131+41_1131+42insCTAT
ENST00000646340.1:c.1974+41_1974+42insCTAT	ENSP00000496730.1:n.1974+41_1974+42insCTAT
ENST00000646647.2:c.1968+41_1968+42insCTAT MANE Select	ENSP00000495240.1:n.1968+41_1968+42insCTAT
ENST00000399982.6:c.1968+41_1968+42insCTAT	ENSP00000382863.2:n.1968+41_1968+42insCTAT
ENST00000430710.7:c.1131+41_1131+42insCTAT	ENSP00000406288.3:n.1131+41_1131+42insCTAT
ENST00000555962.5:n.151-12491_151-12490insCTAT
ENST00000557364.5:c.1968+41_1968+42insCTAT	ENSP00000451601.1:n.1968+41_1968+42insCTAT
NM_001170629.1:c.1968+41_1968+42insCTAT	NP_001164100.1:n.1968+41_1968+42insCTAT
NM_020920.3:c.1131+41_1131+42insCTAT	NP_065971.2:n.1131+41_1131+42insCTAT
NM_001170629.2:c.1968+41_1968+42insCTAT MANE Select	NP_001164100.1:n.1968+41_1968+42insCTAT
NM_020920.4:c.1131+41_1131+42insCTAT	NP_065971.2:n.1131+41_1131+42insCTAT