Canonical Allele Identifier: CA2122502472

Gene: CHD8

Linked Data

• dbSNP Id: rs1328809218

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405888_21405889insGGTGAAGTTTG , CM000676.2:g.21405888_21405889insGGTGAAGTTTG	GRCh38
NC_000014.8:g.21874047_21874048insGGTGAAGTTTG , CM000676.1:g.21874047_21874048insGGTGAAGTTTG	GRCh37
NC_000014.7:g.20943887_20943888insGGTGAAGTTTG	NCBI36
NG_021249.1:g.36410_36411insCAAACTTCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2071-25_2071-24insCAAACTTCACC	ENSP00000406288.3:n.2071-25_2071-24insCAAACTTCACC
ENST00000555935.2:c.584-25_584-24insCAAACTTCACC
ENST00000555962.6:c.-110-2847_-110-2846insCAAACTTCACC	ENSP00000495174.1:n.-110-2847_-110-2846insCAAACTTCACC
ENST00000557364.6:c.2908-25_2908-24insCAAACTTCACC	ENSP00000451601.1:n.2908-25_2908-24insCAAACTTCACC
ENST00000643469.1:c.2908-25_2908-24insCAAACTTCACC	ENSP00000495070.1:n.2908-25_2908-24insCAAACTTCACC
ENST00000645140.1:c.2820-25_2820-24insCAAACTTCACC
ENST00000645206.1:n.1422-25_1422-24insCAAACTTCACC
ENST00000645929.1:c.2071-25_2071-24insCAAACTTCACC	ENSP00000494402.1:n.2071-25_2071-24insCAAACTTCACC
ENST00000646340.1:c.2914-25_2914-24insCAAACTTCACC	ENSP00000496730.1:n.2914-25_2914-24insCAAACTTCACC
ENST00000646647.2:c.2908-25_2908-24insCAAACTTCACC MANE Select	ENSP00000495240.1:n.2908-25_2908-24insCAAACTTCACC
ENST00000399982.6:c.2908-25_2908-24insCAAACTTCACC	ENSP00000382863.2:n.2908-25_2908-24insCAAACTTCACC
ENST00000430710.7:c.2071-25_2071-24insCAAACTTCACC	ENSP00000406288.3:n.2071-25_2071-24insCAAACTTCACC
ENST00000555935.1:c.584-25_584-24insCAAACTTCACC
ENST00000555962.5:n.151-2847_151-2846insCAAACTTCACC
ENST00000557364.5:c.2908-25_2908-24insCAAACTTCACC	ENSP00000451601.1:n.2908-25_2908-24insCAAACTTCACC
NM_001170629.1:c.2908-25_2908-24insCAAACTTCACC	NP_001164100.1:n.2908-25_2908-24insCAAACTTCACC
NM_020920.3:c.2071-25_2071-24insCAAACTTCACC	NP_065971.2:n.2071-25_2071-24insCAAACTTCACC
NM_001170629.2:c.2908-25_2908-24insCAAACTTCACC MANE Select	NP_001164100.1:n.2908-25_2908-24insCAAACTTCACC
NM_020920.4:c.2071-25_2071-24insCAAACTTCACC	NP_065971.2:n.2071-25_2071-24insCAAACTTCACC