Canonical Allele Identifier: CA2548168718

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409855_21409856insACGTAACAATTATCAGTACATATCCAGTC , CM000676.2:g.21409855_21409856insACGTAACAATTATCAGTACATATCCAGTC	GRCh38
NC_000014.8:g.21878014_21878015insACGTAACAATTATCAGTACATATCCAGTC , CM000676.1:g.21878014_21878015insACGTAACAATTATCAGTACATATCCAGTC	GRCh37
NC_000014.7:g.20947854_20947855insACGTAACAATTATCAGTACATATCCAGTC	NCBI36
NG_021249.1:g.32444_32445insACTGGATATGTACTGATAATTGTTACGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1523_1524insACTGGATATGTACTGATAATTGTTACGTG	ENSP00000406288.3:p.Val509LeufsTer5
ENST00000555935.2:c.36_37insACTGGATATGTACTGATAATTGTTACGTG
ENST00000555962.6:c.-110-6813_-110-6812insACTGGATATGTACTGATAATTGTTACGTG	ENSP00000495174.1:n.-110-6813_-110-6812in...
ENST00000557364.6:c.2360_2361insACTGGATATGTACTGATAATTGTTACGTG	ENSP00000451601.1:p.Val788LeufsTer5
ENST00000643469.1:c.2360_2361insACTGGATATGTACTGATAATTGTTACGTG	ENSP00000495070.1:p.Val788LeufsTer5
ENST00000645140.1:c.2272_2273insACTGGATATGTACTGATAATTGTTACGTG
ENST00000645206.1:n.874_875insACTGGATATGTACTGATAATTGTTACGTG
ENST00000645929.1:c.1523_1524insACTGGATATGTACTGATAATTGTTACGTG	ENSP00000494402.1:p.Val509LeufsTer5
ENST00000646340.1:c.2366_2367insACTGGATATGTACTGATAATTGTTACGTG	ENSP00000496730.1:p.Val790LeufsTer5
ENST00000646647.2:c.2360_2361insACTGGATATGTACTGATAATTGTTACGTG MANE Select	ENSP00000495240.1:p.Val788LeufsTer5
ENST00000399982.6:c.2360_2361insACTGGATATGTACTGATAATTGTTACGTG	ENSP00000382863.2:p.Val788LeufsTer5
ENST00000430710.7:c.1523_1524insACTGGATATGTACTGATAATTGTTACGTG	ENSP00000406288.3:p.Val509LeufsTer5
ENST00000554384.1:n.228_229insACTGGATATGTACTGATAATTGTTACGTG
ENST00000555935.1:c.36_37insACTGGATATGTACTGATAATTGTTACGTG
ENST00000555962.5:n.151-6813_151-6812insACTGGATATGTACTGATAATTGTTACGTG
ENST00000557364.5:c.2360_2361insACTGGATATGTACTGATAATTGTTACGTG	ENSP00000451601.1:p.Val788LeufsTer5
NM_001170629.1:c.2360_2361insACTGGATATGTACTGATAATTGTTACGTG	NP_001164100.1:p.Val788LeufsTer5
NM_020920.3:c.1523_1524insACTGGATATGTACTGATAATTGTTACGTG	NP_065971.2:p.Val509LeufsTer5
NM_001170629.2:c.2360_2361insACTGGATATGTACTGATAATTGTTACGTG MANE Select	NP_001164100.1:p.Val788LeufsTer5
NM_020920.4:c.1523_1524insACTGGATATGTACTGATAATTGTTACGTG	NP_065971.2:p.Val509LeufsTer5