Canonical Allele Identifier: CA2122505709

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393335_21393336delinsTA , CM000676.2:g.21393335_21393336delinsTA	GRCh38
NC_000014.8:g.21861494_21861495delinsTA , CM000676.1:g.21861494_21861495delinsTA	GRCh37
NC_000014.7:g.20931334_20931335delinsTA	NCBI36
NG_021249.1:g.48963_48964delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5483-82_5483-81delinsTA	ENSP00000406288.3:n.5483-82_5483-81delinsTA
ENST00000555935.2:c.4020-82_4020-81delinsTA
ENST00000557364.6:c.6320-82_6320-81delinsTA	ENSP00000451601.1:n.6320-82_6320-81delinsTA
ENST00000643469.1:c.6320-82_6320-81delinsTA	ENSP00000495070.1:n.6320-82_6320-81delinsTA
ENST00000645206.1:n.5476-82_5476-81delinsTA
ENST00000645929.1:c.5483-82_5483-81delinsTA	ENSP00000494402.1:n.5483-82_5483-81delinsTA
ENST00000646647.2:c.6320-82_6320-81delinsTA MANE Select	ENSP00000495240.1:n.6320-82_6320-81delinsTA
ENST00000399982.6:c.6320-82_6320-81delinsTA	ENSP00000382863.2:n.6320-82_6320-81delinsTA
ENST00000430710.7:c.5483-82_5483-81delinsTA	ENSP00000406288.3:n.5483-82_5483-81delinsTA
ENST00000557364.5:c.6320-82_6320-81delinsTA	ENSP00000451601.1:n.6320-82_6320-81delinsTA
NM_001170629.1:c.6320-82_6320-81delinsTA	NP_001164100.1:n.6320-82_6320-81delinsTA
NM_020920.3:c.5483-82_5483-81delinsTA	NP_065971.2:n.5483-82_5483-81delinsTA
NM_001170629.2:c.6320-82_6320-81delinsTA MANE Select	NP_001164100.1:n.6320-82_6320-81delinsTA
NM_020920.4:c.5483-82_5483-81delinsTA	NP_065971.2:n.5483-82_5483-81delinsTA