Canonical Allele Identifier: CA2122502398

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405790_21405793delinsCAAG , CM000676.2:g.21405790_21405793delinsCAAG	GRCh38
NC_000014.8:g.21873949_21873952delinsCAAG , CM000676.1:g.21873949_21873952delinsCAAG	GRCh37
NC_000014.7:g.20943789_20943792delinsCAAG	NCBI36
NG_021249.1:g.36506_36509delinsCTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.2142_2145delinsCTTG	ENSP00000406288.3:p.Phe714=
ENST00000555935.2:c.655_658delinsCTTG
ENST00000555962.6:c.-110-2751_-110-2748delinsCTTG	ENSP00000495174.1:n.-110-2751_-110-2748de...
ENST00000557364.6:c.2979_2982delinsCTTG	ENSP00000451601.1:p.Phe993=
ENST00000643469.1:c.2979_2982delinsCTTG	ENSP00000495070.1:p.Phe993=
ENST00000645140.1:c.2891_2894delinsCTTG
ENST00000645206.1:n.1493_1496delinsCTTG
ENST00000645929.1:c.2142_2145delinsCTTG	ENSP00000494402.1:p.Phe714=
ENST00000646340.1:c.2985_2988delinsCTTG	ENSP00000496730.1:p.Phe995=
ENST00000646647.2:c.2979_2982delinsCTTG MANE Select	ENSP00000495240.1:p.Phe993=
ENST00000399982.6:c.2979_2982delinsCTTG	ENSP00000382863.2:p.Phe993=
ENST00000430710.7:c.2142_2145delinsCTTG	ENSP00000406288.3:p.Phe714=
ENST00000555935.1:c.655_658delinsCTTG
ENST00000555962.5:n.151-2751_151-2748delinsCTTG
ENST00000557364.5:c.2979_2982delinsCTTG	ENSP00000451601.1:p.Phe993=
NM_001170629.1:c.2979_2982delinsCTTG	NP_001164100.1:p.Phe993=
NM_020920.3:c.2142_2145delinsCTTG	NP_065971.2:p.Phe714=
NM_001170629.2:c.2979_2982delinsCTTG MANE Select	NP_001164100.1:p.Phe993=
NM_020920.4:c.2142_2145delinsCTTG	NP_065971.2:p.Phe714=