Canonical Allele Identifier: CA2122505982

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393512_21393518delinsTGCTGGA , CM000676.2:g.21393512_21393518delinsTGCTGGA	GRCh38
NC_000014.8:g.21861671_21861677delinsTGCTGGA , CM000676.1:g.21861671_21861677delinsTGCTGGA	GRCh37
NC_000014.7:g.20931511_20931517delinsTGCTGGA	NCBI36
NG_021249.1:g.48781_48787delinsTCCAGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.5440_5446delinsTCCAGCA	ENSP00000406288.3:p.Ser1814=
ENST00000555935.2:c.3977_3983delinsTCCAGCA
ENST00000557364.6:c.6277_6283delinsTCCAGCA	ENSP00000451601.1:p.Ser2093=
ENST00000643469.1:c.6277_6283delinsTCCAGCA	ENSP00000495070.1:p.Ser2093=
ENST00000645206.1:n.5433_5439delinsTCCAGCA
ENST00000645929.1:c.5440_5446delinsTCCAGCA	ENSP00000494402.1:p.Ser1814=
ENST00000646647.2:c.6277_6283delinsTCCAGCA MANE Select	ENSP00000495240.1:p.Ser2093=
ENST00000399982.6:c.6277_6283delinsTCCAGCA	ENSP00000382863.2:p.Ser2093=
ENST00000430710.7:c.5440_5446delinsTCCAGCA	ENSP00000406288.3:p.Ser1814=
ENST00000557364.5:c.6277_6283delinsTCCAGCA	ENSP00000451601.1:p.Ser2093=
NM_001170629.1:c.6277_6283delinsTCCAGCA	NP_001164100.1:p.Ser2093=
NM_020920.3:c.5440_5446delinsTCCAGCA	NP_065971.2:p.Ser1814=
NM_001170629.2:c.6277_6283delinsTCCAGCA MANE Select	NP_001164100.1:p.Ser2093=
NM_020920.4:c.5440_5446delinsTCCAGCA	NP_065971.2:p.Ser1814=