Canonical Allele Identifier: CA2575477736

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429384_21429385del , CM000676.2:g.21429384_21429385del	GRCh38
NC_000014.8:g.21897543_21897544del , CM000676.1:g.21897543_21897544del	GRCh37
NC_000014.7:g.20967383_20967384del	NCBI36
NG_021249.1:g.12916_12917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.7-48_7-47del	ENSP00000406288.3:n.7-48_7-47del
ENST00000553651.2:n.2602_2603del
ENST00000555962.6:c.-111+2428_-111+2429del	ENSP00000495174.1:n.-111+2428_-111+2429del
ENST00000557364.6:c.844-48_844-47del	ENSP00000451601.1:n.844-48_844-47del
ENST00000642518.1:c.7-48_7-47del	ENSP00000496722.1:n.7-48_7-47del
ENST00000643048.1:n.1139-48_1139-47del
ENST00000643469.1:c.844-48_844-47del	ENSP00000495070.1:n.844-48_844-47del
ENST00000645140.1:c.756-48_756-47del
ENST00000645929.1:c.7-48_7-47del	ENSP00000494402.1:n.7-48_7-47del
ENST00000646063.1:c.931-48_931-47del	ENSP00000496565.1:n.931-48_931-47del
ENST00000646340.1:c.850-48_850-47del	ENSP00000496730.1:n.850-48_850-47del
ENST00000646647.2:c.844-48_844-47del MANE Select	ENSP00000495240.1:n.844-48_844-47del
ENST00000399982.6:c.844-48_844-47del	ENSP00000382863.2:n.844-48_844-47del
ENST00000430710.7:c.7-48_7-47del	ENSP00000406288.3:n.7-48_7-47del
ENST00000553283.1:c.97-48_97-47del	ENSP00000450860.1:n.97-48_97-47del
ENST00000555962.5:n.150+2428_150+2429del
ENST00000557364.5:c.844-48_844-47del	ENSP00000451601.1:n.844-48_844-47del
NM_001170629.1:c.844-48_844-47del	NP_001164100.1:n.844-48_844-47del
NM_020920.3:c.7-48_7-47del	NP_065971.2:n.7-48_7-47del
NM_001170629.2:c.844-48_844-47del MANE Select	NP_001164100.1:n.844-48_844-47del
NM_020920.4:c.7-48_7-47del	NP_065971.2:n.7-48_7-47del