Canonical Allele Identifier: CA2695219070

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393487_21393488del , CM000676.2:g.21393487_21393488del	GRCh38
NC_000014.8:g.21861646_21861647del , CM000676.1:g.21861646_21861647del	GRCh37
NC_000014.7:g.20931486_20931487del	NCBI36
NG_021249.1:g.48811_48812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5470_5471del	ENSP00000406288.3:p.Glu1824ArgfsTer5
ENST00000555935.2:c.4007_4008del
ENST00000557364.6:c.6307_6308del	ENSP00000451601.1:p.Glu2103ArgfsTer5
ENST00000643469.1:c.6307_6308del	ENSP00000495070.1:p.Glu2103ArgfsTer5
ENST00000645206.1:n.5463_5464del
ENST00000645929.1:c.5470_5471del	ENSP00000494402.1:p.Glu1824ArgfsTer5
ENST00000646647.2:c.6307_6308del MANE Select	ENSP00000495240.1:p.Glu2103ArgfsTer5
ENST00000399982.6:c.6307_6308del	ENSP00000382863.2:p.Glu2103ArgfsTer5
ENST00000430710.7:c.5470_5471del	ENSP00000406288.3:p.Glu1824ArgfsTer5
ENST00000557364.5:c.6307_6308del	ENSP00000451601.1:p.Glu2103ArgfsTer5
NM_001170629.1:c.6307_6308del	NP_001164100.1:p.Glu2103ArgfsTer5
NM_020920.3:c.5470_5471del	NP_065971.2:p.Glu1824ArgfsTer5
NM_001170629.2:c.6307_6308del MANE Select	NP_001164100.1:p.Glu2103ArgfsTer5
NM_020920.4:c.5470_5471del	NP_065971.2:p.Glu1824ArgfsTer5