Canonical Allele Identifier: CA2122495193

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21401087_21401090delinsAAGG , CM000676.2:g.21401087_21401090delinsAAGG	GRCh38
NC_000014.8:g.21869246_21869249delinsAAGG , CM000676.1:g.21869246_21869249delinsAAGG	GRCh37
NC_000014.7:g.20939086_20939089delinsAAGG	NCBI36
NG_021249.1:g.41209_41212delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3337-19_3337-16delinsCCTT	ENSP00000406288.3:n.3337-19_3337-16delinsCCTT
ENST00000555935.2:c.1850-19_1850-16delinsCCTT
ENST00000555962.6:c.265-783_265-780delinsCCTT	ENSP00000495174.1:n.265-783_265-780delinsCCTT
ENST00000557364.6:c.4174-19_4174-16delinsCCTT	ENSP00000451601.1:n.4174-19_4174-16delinsCCTT
ENST00000643469.1:c.4174-19_4174-16delinsCCTT	ENSP00000495070.1:n.4174-19_4174-16delinsCCTT
ENST00000645206.1:n.2688-19_2688-16delinsCCTT
ENST00000645929.1:c.3337-19_3337-16delinsCCTT	ENSP00000494402.1:n.3337-19_3337-16delinsCCTT
ENST00000646340.1:c.4180-19_4180-16delinsCCTT	ENSP00000496730.1:n.4180-19_4180-16delinsCCTT
ENST00000646558.1:n.728-19_728-16delinsCCTT
ENST00000646647.2:c.4174-19_4174-16delinsCCTT MANE Select	ENSP00000495240.1:n.4174-19_4174-16delinsCCTT
ENST00000399982.6:c.4174-19_4174-16delinsCCTT	ENSP00000382863.2:n.4174-19_4174-16delinsCCTT
ENST00000430710.7:c.3337-19_3337-16delinsCCTT	ENSP00000406288.3:n.3337-19_3337-16delinsCCTT
ENST00000555935.1:c.1850-19_1850-16delinsCCTT
ENST00000555962.5:n.525-783_525-780delinsCCTT
ENST00000557364.5:c.4174-19_4174-16delinsCCTT	ENSP00000451601.1:n.4174-19_4174-16delinsCCTT
NM_001170629.1:c.4174-19_4174-16delinsCCTT	NP_001164100.1:n.4174-19_4174-16delinsCCTT
NM_020920.3:c.3337-19_3337-16delinsCCTT	NP_065971.2:n.3337-19_3337-16delinsCCTT
NM_001170629.2:c.4174-19_4174-16delinsCCTT MANE Select	NP_001164100.1:n.4174-19_4174-16delinsCCTT
NM_020920.4:c.3337-19_3337-16delinsCCTT	NP_065971.2:n.3337-19_3337-16delinsCCTT