Canonical Allele Identifier: CA2695219095

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405760_21405761delinsA , CM000676.2:g.21405760_21405761delinsA	GRCh38
NC_000014.8:g.21873919_21873920delinsA , CM000676.1:g.21873919_21873920delinsA	GRCh37
NC_000014.7:g.20943759_20943760delinsA	NCBI36
NG_021249.1:g.36538_36539delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2174_2175delinsT	ENSP00000406288.3:p.Glu725ValfsTer25
ENST00000555935.2:c.687_688delinsT
ENST00000555962.6:c.-110-2719_-110-2718delinsT	ENSP00000495174.1:n.-110-2719_-110-2718delinsT
ENST00000557364.6:c.3011_3012delinsT	ENSP00000451601.1:p.Glu1004ValfsTer25
ENST00000643469.1:c.3011_3012delinsT	ENSP00000495070.1:p.Glu1004ValfsTer25
ENST00000645140.1:c.2923_2924delinsT
ENST00000645206.1:n.1525_1526delinsT
ENST00000645929.1:c.2174_2175delinsT	ENSP00000494402.1:p.Glu725ValfsTer25
ENST00000646340.1:c.3017_3018delinsT	ENSP00000496730.1:p.Glu1006ValfsTer25
ENST00000646647.2:c.3011_3012delinsT MANE Select	ENSP00000495240.1:p.Glu1004ValfsTer25
ENST00000399982.6:c.3011_3012delinsT	ENSP00000382863.2:p.Glu1004ValfsTer25
ENST00000430710.7:c.2174_2175delinsT	ENSP00000406288.3:p.Glu725ValfsTer25
ENST00000555935.1:c.687_688delinsT
ENST00000555962.5:n.151-2719_151-2718delinsT
ENST00000557364.5:c.3011_3012delinsT	ENSP00000451601.1:p.Glu1004ValfsTer25
NM_001170629.1:c.3011_3012delinsT	NP_001164100.1:p.Glu1004ValfsTer25
NM_020920.3:c.2174_2175delinsT	NP_065971.2:p.Glu725ValfsTer25
NM_001170629.2:c.3011_3012delinsT MANE Select	NP_001164100.1:p.Glu1004ValfsTer25
NM_020920.4:c.2174_2175delinsT	NP_065971.2:p.Glu725ValfsTer25