Canonical Allele Identifier: CA704091244

Gene: CHD8

Linked Data

• dbSNP Id: rs1365064540
• gnomAD v3: 14-21429032-TCTGAGC-T
• gnomAD v4: 14-21429032-TCTGAGC-T
• MyVariant Identifiers: chr14:g.21897192_21897197del (hg19) ; chr14:g.21429033_21429038del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429036_21429041del , CM000676.2:g.21429036_21429041del	GRCh38
NC_000014.8:g.21897195_21897200del , CM000676.1:g.21897195_21897200del	GRCh37
NC_000014.7:g.20967035_20967040del	NCBI36
NG_021249.1:g.13261_13266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.304_309del	ENSP00000406288.3:p.Ala102_Gln103del
ENST00000553651.2:n.2947_2952del
ENST00000555962.6:c.-111+2773_-111+2778del	ENSP00000495174.1:n.-111+2773_-111+2778del
ENST00000557364.6:c.1141_1146del	ENSP00000451601.1:p.Ala381_Gln382del
ENST00000642518.1:c.304_309del	ENSP00000496722.1:p.Ala102_Gln103del
ENST00000643048.1:n.1436_1441del
ENST00000643469.1:c.1141_1146del	ENSP00000495070.1:p.Ala381_Gln382del
ENST00000645140.1:c.1053_1058del
ENST00000645929.1:c.304_309del	ENSP00000494402.1:p.Ala102_Gln103del
ENST00000646063.1:c.1228_1233del	ENSP00000496565.1:p.Ala410_Gln411del
ENST00000646340.1:c.1147_1152del	ENSP00000496730.1:p.Ala383_Gln384del
ENST00000646647.2:c.1141_1146del MANE Select	ENSP00000495240.1:p.Ala381_Gln382del
ENST00000399982.6:c.1141_1146del	ENSP00000382863.2:p.Ala381_Gln382del
ENST00000430710.7:c.304_309del	ENSP00000406288.3:p.Ala102_Gln103del
ENST00000555962.5:n.150+2773_150+2778del
ENST00000557364.5:c.1141_1146del	ENSP00000451601.1:p.Ala381_Gln382del
NM_001170629.1:c.1141_1146del	NP_001164100.1:p.Ala381_Gln382del
NM_020920.3:c.304_309del	NP_065971.2:p.Ala102_Gln103del
NM_001170629.2:c.1141_1146del MANE Select	NP_001164100.1:p.Ala381_Gln382del
NM_020920.4:c.304_309del	NP_065971.2:p.Ala102_Gln103del