Canonical Allele Identifier: CA2575477086

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393491_21393493del , CM000676.2:g.21393491_21393493del	GRCh38
NC_000014.8:g.21861650_21861652del , CM000676.1:g.21861650_21861652del	GRCh37
NC_000014.7:g.20931490_20931492del	NCBI36
NG_021249.1:g.48808_48810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5467_5469del	ENSP00000406288.3:p.Lys1823del
ENST00000555935.2:c.4004_4006del
ENST00000557364.6:c.6304_6306del	ENSP00000451601.1:p.Lys2102del
ENST00000643469.1:c.6304_6306del	ENSP00000495070.1:p.Lys2102del
ENST00000645206.1:n.5460_5462del
ENST00000645929.1:c.5467_5469del	ENSP00000494402.1:p.Lys1823del
ENST00000646647.2:c.6304_6306del MANE Select	ENSP00000495240.1:p.Lys2102del
ENST00000399982.6:c.6304_6306del	ENSP00000382863.2:p.Lys2102del
ENST00000430710.7:c.5467_5469del	ENSP00000406288.3:p.Lys1823del
ENST00000557364.5:c.6304_6306del	ENSP00000451601.1:p.Lys2102del
NM_001170629.1:c.6304_6306del	NP_001164100.1:p.Lys2102del
NM_020920.3:c.5467_5469del	NP_065971.2:p.Lys1823del
NM_001170629.2:c.6304_6306del MANE Select	NP_001164100.1:p.Lys2102del
NM_020920.4:c.5467_5469del	NP_065971.2:p.Lys1823del