Canonical Allele Identifier: CA2122505885

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393473_21393477delinsCACTT , CM000676.2:g.21393473_21393477delinsCACTT	GRCh38
NC_000014.8:g.21861632_21861636delinsCACTT , CM000676.1:g.21861632_21861636delinsCACTT	GRCh37
NC_000014.7:g.20931472_20931476delinsCACTT	NCBI36
NG_021249.1:g.48822_48826delinsAAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5481_5482+3delinsAAGTG
ENST00000555935.2:c.4018_4019+3delinsAAGTG
ENST00000557364.6:c.6318_6319+3delinsAAGTG
ENST00000643469.1:c.6318_6319+3delinsAAGTG
ENST00000645206.1:n.5474_5475+3delinsAAGTG
ENST00000645929.1:c.5481_5482+3delinsAAGTG
ENST00000646647.2:c.6318_6319+3delinsAAGTG
ENST00000399982.6:c.6318_6319+3delinsAAGTG
ENST00000430710.7:c.5481_5482+3delinsAAGTG
ENST00000557364.5:c.6318_6319+3delinsAAGTG
NM_001170629.1:c.6318_6319+3delinsAAGTG
NM_020920.3:c.5481_5482+3delinsAAGTG
NM_001170629.2:c.6318_6319+3delinsAAGTG
NM_020920.4:c.5481_5482+3delinsAAGTG