Canonical Allele Identifier: CA612384238

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21385835_21385843dup , CM000676.2:g.21385835_21385843dup	GRCh38
NC_000014.8:g.21853994_21854002dup , CM000676.1:g.21853994_21854002dup	GRCh37
NC_000014.7:g.20923834_20923842dup	NCBI36
NG_009932.1:g.3425_3433dup
NG_021249.1:g.56457_56465dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.6680_6688dup	ENSP00000406288.3:p.His2229_Pro2230insHisHisHis
ENST00000553870.2:c.889_897dup
ENST00000555935.2:c.5217_5225dup
ENST00000557364.6:c.7517_7525dup	ENSP00000451601.1:p.His2508_Pro2509insHisHisHis
ENST00000643469.1:c.7517_7525dup	ENSP00000495070.1:p.His2508_Pro2509insHisHisHis
ENST00000645206.1:n.6673_6681dup
ENST00000645929.1:c.6680_6688dup	ENSP00000494402.1:p.His2229_Pro2230insHisHisHis
ENST00000646647.2:c.7517_7525dup MANE Select	ENSP00000495240.1:p.His2508_Pro2509insHisHisHis
ENST00000399982.6:c.7517_7525dup	ENSP00000382863.2:p.His2508_Pro2509insHisHisHis
ENST00000430710.7:c.6680_6688dup	ENSP00000406288.3:p.His2229_Pro2230insHisHisHis
ENST00000557364.5:c.7517_7525dup	ENSP00000451601.1:p.His2508_Pro2509insHisHisHis
ENST00000557727.1:n.503_511dup
NM_001170629.1:c.7517_7525dup	NP_001164100.1:p.His2508_Pro2509insHisHisHis
NM_020920.3:c.6680_6688dup	NP_065971.2:p.His2229_Pro2230insHisHisHis
XR_001750627.1:n.621+1122_621+1130dup
NM_001170629.2:c.7517_7525dup MANE Select	NP_001164100.1:p.His2508_Pro2509insHisHisHis
NM_020920.4:c.6680_6688dup	NP_065971.2:p.His2229_Pro2230insHisHisHis