Canonical Allele Identifier: CA2122483189

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409869_21409870delinsGT , CM000676.2:g.21409869_21409870delinsGT	GRCh38
NC_000014.8:g.21878028_21878029delinsGT , CM000676.1:g.21878028_21878029delinsGT	GRCh37
NC_000014.7:g.20947868_20947869delinsGT	NCBI36
NG_021249.1:g.32429_32430delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1508_1509delinsAC	ENSP00000406288.3:p.His503=
ENST00000555935.2:c.21_22delinsAC
ENST00000555962.6:c.-110-6828_-110-6827delinsAC	ENSP00000495174.1:n.-110-6828_-110-6827delinsAC
ENST00000557364.6:c.2345_2346delinsAC	ENSP00000451601.1:p.His782=
ENST00000643469.1:c.2345_2346delinsAC	ENSP00000495070.1:p.His782=
ENST00000645140.1:c.2257_2258delinsAC
ENST00000645206.1:n.859_860delinsAC
ENST00000645929.1:c.1508_1509delinsAC	ENSP00000494402.1:p.His503=
ENST00000646340.1:c.2351_2352delinsAC	ENSP00000496730.1:p.His784=
ENST00000646647.2:c.2345_2346delinsAC MANE Select	ENSP00000495240.1:p.His782=
ENST00000399982.6:c.2345_2346delinsAC	ENSP00000382863.2:p.His782=
ENST00000430710.7:c.1508_1509delinsAC	ENSP00000406288.3:p.His503=
ENST00000554384.1:n.213_214delinsAC
ENST00000555935.1:c.21_22delinsAC
ENST00000555962.5:n.151-6828_151-6827delinsAC
ENST00000557364.5:c.2345_2346delinsAC	ENSP00000451601.1:p.His782=
NM_001170629.1:c.2345_2346delinsAC	NP_001164100.1:p.His782=
NM_020920.3:c.1508_1509delinsAC	NP_065971.2:p.His503=
NM_001170629.2:c.2345_2346delinsAC MANE Select	NP_001164100.1:p.His782=
NM_020920.4:c.1508_1509delinsAC	NP_065971.2:p.His503=