Canonical Allele Identifier: CA7091658

Gene: CHD8

Linked Data

• dbSNP Id: rs566500015
• ExAC: 14:21883695 AATAAATAAAAAT / A
• gnomAD v2: 14-21883695-AATAAATAAAAAT-A
• gnomAD v3: 14-21415536-AATAAATAAAAAT-A
• gnomAD v4: 14-21415536-AATAAATAAAAAT-A
• MyVariant Identifiers: chr14:g.21883696_21883707del (hg19) ; chr14:g.21415538_21415549del (hg38) ; chr14:g.21415537_21415548del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415538_21415549del , CM000676.2:g.21415538_21415549del	GRCh38
NC_000014.8:g.21883697_21883708del , CM000676.1:g.21883697_21883708del	GRCh37
NC_000014.7:g.20953537_20953548del	NCBI36
NG_021249.1:g.26751_26762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+26_1131+37del	ENSP00000406288.3:n.1131+26_1131+37del
ENST00000555962.6:c.-110-12506_-110-12495del	ENSP00000495174.1:n.-110-12506_-110-12495del
ENST00000557364.6:c.1968+26_1968+37del	ENSP00000451601.1:n.1968+26_1968+37del
ENST00000642914.1:n.977_988del
ENST00000643469.1:c.1968+26_1968+37del	ENSP00000495070.1:n.1968+26_1968+37del
ENST00000645140.1:c.1880+26_1880+37del
ENST00000645206.1:n.482+26_482+37del
ENST00000645929.1:c.1131+26_1131+37del	ENSP00000494402.1:n.1131+26_1131+37del
ENST00000646340.1:c.1974+26_1974+37del	ENSP00000496730.1:n.1974+26_1974+37del
ENST00000646647.2:c.1968+26_1968+37del MANE Select	ENSP00000495240.1:n.1968+26_1968+37del
ENST00000399982.6:c.1968+26_1968+37del	ENSP00000382863.2:n.1968+26_1968+37del
ENST00000430710.7:c.1131+26_1131+37del	ENSP00000406288.3:n.1131+26_1131+37del
ENST00000555962.5:n.151-12506_151-12495del
ENST00000557364.5:c.1968+26_1968+37del	ENSP00000451601.1:n.1968+26_1968+37del
NM_001170629.1:c.1968+26_1968+37del	NP_001164100.1:n.1968+26_1968+37del
NM_020920.3:c.1131+26_1131+37del	NP_065971.2:n.1131+26_1131+37del
NM_001170629.2:c.1968+26_1968+37del MANE Select	NP_001164100.1:n.1968+26_1968+37del
NM_020920.4:c.1131+26_1131+37del	NP_065971.2:n.1131+26_1131+37del