Canonical Allele Identifier: CA257547749

Gene: CHD8

Linked Data

• dbSNP Id: rs57234315
• gnomAD v2: 14-21883704-A-AT
• gnomAD v3: 14-21415545-A-AT
• gnomAD v4: 14-21415545-A-AT
• MyVariant Identifiers: chr14:g.21883704_21883705insT (hg19) ; chr14:g.21883705_21883707delinsTAAT (hg19) ; chr14:g.21415545_21415546insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415545_21415546insT , CM000676.2:g.21415545_21415546insT	GRCh38
NC_000014.8:g.21883704_21883705insT , CM000676.1:g.21883704_21883705insT	GRCh37
NC_000014.7:g.20953544_20953545insT	NCBI36
NG_021249.1:g.26753_26754insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+28_1131+29insA	ENSP00000406288.3:n.1131+28_1131+29insA
ENST00000555962.6:c.-110-12504_-110-12503insA	ENSP00000495174.1:n.-110-12504_-110-12503insA
ENST00000557364.6:c.1968+28_1968+29insA	ENSP00000451601.1:n.1968+28_1968+29insA
ENST00000642914.1:n.979_980insA
ENST00000643469.1:c.1968+28_1968+29insA	ENSP00000495070.1:n.1968+28_1968+29insA
ENST00000645140.1:c.1880+28_1880+29insA
ENST00000645206.1:n.482+28_482+29insA
ENST00000645929.1:c.1131+28_1131+29insA	ENSP00000494402.1:n.1131+28_1131+29insA
ENST00000646340.1:c.1974+28_1974+29insA	ENSP00000496730.1:n.1974+28_1974+29insA
ENST00000646647.2:c.1968+28_1968+29insA MANE Select	ENSP00000495240.1:n.1968+28_1968+29insA
ENST00000399982.6:c.1968+28_1968+29insA	ENSP00000382863.2:n.1968+28_1968+29insA
ENST00000430710.7:c.1131+28_1131+29insA	ENSP00000406288.3:n.1131+28_1131+29insA
ENST00000555962.5:n.151-12504_151-12503insA
ENST00000557364.5:c.1968+28_1968+29insA	ENSP00000451601.1:n.1968+28_1968+29insA
NM_001170629.1:c.1968+28_1968+29insA	NP_001164100.1:n.1968+28_1968+29insA
NM_020920.3:c.1131+28_1131+29insA	NP_065971.2:n.1131+28_1131+29insA
NM_001170629.2:c.1968+28_1968+29insA MANE Select	NP_001164100.1:n.1968+28_1968+29insA
NM_020920.4:c.1131+28_1131+29insA	NP_065971.2:n.1131+28_1131+29insA