Canonical Allele Identifier: CA7091665

Gene: CHD8

Linked Data

• dbSNP Id: rs371035822
• ExAC: 14:21883703 AAAAT / A
• MyVariant Identifiers: chr14:g.21883704_21883707del (hg19) ; chr14:g.21415546_21415549del (hg38) ; chr14:g.21415545_21415548del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415547_21415550del , CM000676.2:g.21415547_21415550del	GRCh38
NC_000014.8:g.21883706_21883709del , CM000676.1:g.21883706_21883709del	GRCh37
NC_000014.7:g.20953546_20953549del	NCBI36
NG_021249.1:g.26751_26754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+26_1131+29del	ENSP00000406288.3:n.1131+26_1131+29del
ENST00000555962.6:c.-110-12506_-110-12503del	ENSP00000495174.1:n.-110-12506_-110-12503del
ENST00000557364.6:c.1968+26_1968+29del	ENSP00000451601.1:n.1968+26_1968+29del
ENST00000642914.1:n.977_980del
ENST00000643469.1:c.1968+26_1968+29del	ENSP00000495070.1:n.1968+26_1968+29del
ENST00000645140.1:c.1880+26_1880+29del
ENST00000645206.1:n.482+26_482+29del
ENST00000645929.1:c.1131+26_1131+29del	ENSP00000494402.1:n.1131+26_1131+29del
ENST00000646340.1:c.1974+26_1974+29del	ENSP00000496730.1:n.1974+26_1974+29del
ENST00000646647.2:c.1968+26_1968+29del MANE Select	ENSP00000495240.1:n.1968+26_1968+29del
ENST00000399982.6:c.1968+26_1968+29del	ENSP00000382863.2:n.1968+26_1968+29del
ENST00000430710.7:c.1131+26_1131+29del	ENSP00000406288.3:n.1131+26_1131+29del
ENST00000555962.5:n.151-12506_151-12503del
ENST00000557364.5:c.1968+26_1968+29del	ENSP00000451601.1:n.1968+26_1968+29del
NM_001170629.1:c.1968+26_1968+29del	NP_001164100.1:n.1968+26_1968+29del
NM_020920.3:c.1131+26_1131+29del	NP_065971.2:n.1131+26_1131+29del
NM_001170629.2:c.1968+26_1968+29del MANE Select	NP_001164100.1:n.1968+26_1968+29del
NM_020920.4:c.1131+26_1131+29del	NP_065971.2:n.1131+26_1131+29del