Canonical Allele Identifier: CA2122488994

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415488_21415492delinsCAGTT , CM000676.2:g.21415488_21415492delinsCAGTT	GRCh38
NC_000014.8:g.21883647_21883651delinsCAGTT , CM000676.1:g.21883647_21883651delinsCAGTT	GRCh37
NC_000014.7:g.20953487_20953491delinsCAGTT	NCBI36
NG_021249.1:g.26807_26811delinsAACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+82_1131+86delinsAACTG	ENSP00000406288.3:n.1131+82_1131+86delinsAACTG
ENST00000555962.6:c.-110-12450_-110-12446delinsAACTG	ENSP00000495174.1:n.-110-12450_-110-12446delinsAACTG
ENST00000557364.6:c.1968+82_1968+86delinsAACTG	ENSP00000451601.1:n.1968+82_1968+86delinsAACTG
ENST00000642914.1:n.1033_1037delinsAACTG
ENST00000643469.1:c.1968+82_1968+86delinsAACTG	ENSP00000495070.1:n.1968+82_1968+86delinsAACTG
ENST00000645140.1:c.1880+82_1880+86delinsAACTG
ENST00000645206.1:n.482+82_482+86delinsAACTG
ENST00000645929.1:c.1131+82_1131+86delinsAACTG	ENSP00000494402.1:n.1131+82_1131+86delinsAACTG
ENST00000646340.1:c.1974+82_1974+86delinsAACTG	ENSP00000496730.1:n.1974+82_1974+86delinsAACTG
ENST00000646647.2:c.1968+82_1968+86delinsAACTG MANE Select	ENSP00000495240.1:n.1968+82_1968+86delinsAACTG
ENST00000399982.6:c.1968+82_1968+86delinsAACTG	ENSP00000382863.2:n.1968+82_1968+86delinsAACTG
ENST00000430710.7:c.1131+82_1131+86delinsAACTG	ENSP00000406288.3:n.1131+82_1131+86delinsAACTG
ENST00000555962.5:n.151-12450_151-12446delinsAACTG
ENST00000557364.5:c.1968+82_1968+86delinsAACTG	ENSP00000451601.1:n.1968+82_1968+86delinsAACTG
NM_001170629.1:c.1968+82_1968+86delinsAACTG	NP_001164100.1:n.1968+82_1968+86delinsAACTG
NM_020920.3:c.1131+82_1131+86delinsAACTG	NP_065971.2:n.1131+82_1131+86delinsAACTG
NM_001170629.2:c.1968+82_1968+86delinsAACTG MANE Select	NP_001164100.1:n.1968+82_1968+86delinsAACTG
NM_020920.4:c.1131+82_1131+86delinsAACTG	NP_065971.2:n.1131+82_1131+86delinsAACTG