Canonical Allele Identifier: CA2122506056

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429032_21429038delinsTCTGAGC , CM000676.2:g.21429032_21429038delinsTCTGAGC	GRCh38
NC_000014.8:g.21897191_21897197delinsTCTGAGC , CM000676.1:g.21897191_21897197delinsTCTGAGC	GRCh37
NC_000014.7:g.20967031_20967037delinsTCTGAGC	NCBI36
NG_021249.1:g.13261_13267delinsGCTCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.304_310delinsGCTCAGA	ENSP00000406288.3:p.Ala102=
ENST00000553651.2:n.2947_2953delinsGCTCAGA
ENST00000555962.6:c.-111+2773_-111+2779delinsGCTCAGA	ENSP00000495174.1:n.-111+2773_-111+2779delinsGCTCAGA
ENST00000557364.6:c.1141_1147delinsGCTCAGA	ENSP00000451601.1:p.Ala381=
ENST00000642518.1:c.304_310delinsGCTCAGA	ENSP00000496722.1:p.Ala102=
ENST00000643048.1:n.1436_1442delinsGCTCAGA
ENST00000643469.1:c.1141_1147delinsGCTCAGA	ENSP00000495070.1:p.Ala381=
ENST00000645140.1:c.1053_1059delinsGCTCAGA
ENST00000645929.1:c.304_310delinsGCTCAGA	ENSP00000494402.1:p.Ala102=
ENST00000646063.1:c.1228_1234delinsGCTCAGA	ENSP00000496565.1:p.Ala410=
ENST00000646340.1:c.1147_1153delinsGCTCAGA	ENSP00000496730.1:p.Ala383=
ENST00000646647.2:c.1141_1147delinsGCTCAGA MANE Select	ENSP00000495240.1:p.Ala381=
ENST00000399982.6:c.1141_1147delinsGCTCAGA	ENSP00000382863.2:p.Ala381=
ENST00000430710.7:c.304_310delinsGCTCAGA	ENSP00000406288.3:p.Ala102=
ENST00000555962.5:n.150+2773_150+2779delinsGCTCAGA
ENST00000557364.5:c.1141_1147delinsGCTCAGA	ENSP00000451601.1:p.Ala381=
NM_001170629.1:c.1141_1147delinsGCTCAGA	NP_001164100.1:p.Ala381=
NM_020920.3:c.304_310delinsGCTCAGA	NP_065971.2:p.Ala102=
NM_001170629.2:c.1141_1147delinsGCTCAGA MANE Select	NP_001164100.1:p.Ala381=
NM_020920.4:c.304_310delinsGCTCAGA	NP_065971.2:p.Ala102=