Canonical Allele Identifier: CA2122505997

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429000_21429012delinsTCTTTGTCCTGGG , CM000676.2:g.21429000_21429012delinsTCTTTGTCCTGGG	GRCh38
NC_000014.8:g.21897159_21897171delinsTCTTTGTCCTGGG , CM000676.1:g.21897159_21897171delinsTCTTTGTCCTGGG	GRCh37
NC_000014.7:g.20966999_20967011delinsTCTTTGTCCTGGG	NCBI36
NG_021249.1:g.13287_13299delinsCCCAGGACAAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.330_342delinsCCCAGGACAAAGA	ENSP00000406288.3:p.Ser110=
ENST00000553651.2:n.2973_2985delinsCCCAGGACAAAGA
ENST00000555962.6:c.-111+2799_-111+2811delinsCCCAGGACAAAGA	ENSP00000495174.1:n.-111+2799_-111+2811delinsCCCAGGACAAAGA
ENST00000557364.6:c.1167_1179delinsCCCAGGACAAAGA	ENSP00000451601.1:p.Ser389=
ENST00000642518.1:c.330_342delinsCCCAGGACAAAGA	ENSP00000496722.1:p.Ser110=
ENST00000643048.1:n.1462_1474delinsCCCAGGACAAAGA
ENST00000643469.1:c.1167_1179delinsCCCAGGACAAAGA	ENSP00000495070.1:p.Ser389=
ENST00000645140.1:c.1079_1091delinsCCCAGGACAAAGA
ENST00000645929.1:c.330_342delinsCCCAGGACAAAGA	ENSP00000494402.1:p.Ser110=
ENST00000646063.1:c.1254_1266delinsCCCAGGACAAAGA	ENSP00000496565.1:p.Ser418=
ENST00000646340.1:c.1173_1185delinsCCCAGGACAAAGA	ENSP00000496730.1:p.Ser391=
ENST00000646647.2:c.1167_1179delinsCCCAGGACAAAGA MANE Select	ENSP00000495240.1:p.Ser389=
ENST00000399982.6:c.1167_1179delinsCCCAGGACAAAGA	ENSP00000382863.2:p.Ser389=
ENST00000430710.7:c.330_342delinsCCCAGGACAAAGA	ENSP00000406288.3:p.Ser110=
ENST00000555962.5:n.150+2799_150+2811delinsCCCAGGACAAAGA
ENST00000557364.5:c.1167_1179delinsCCCAGGACAAAGA	ENSP00000451601.1:p.Ser389=
NM_001170629.1:c.1167_1179delinsCCCAGGACAAAGA	NP_001164100.1:p.Ser389=
NM_020920.3:c.330_342delinsCCCAGGACAAAGA	NP_065971.2:p.Ser110=
NM_001170629.2:c.1167_1179delinsCCCAGGACAAAGA MANE Select	NP_001164100.1:p.Ser389=
NM_020920.4:c.330_342delinsCCCAGGACAAAGA	NP_065971.2:p.Ser110=