Canonical Allele Identifier: CA2122495189

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21401084_21401087delinsCAGA , CM000676.2:g.21401084_21401087delinsCAGA	GRCh38
NC_000014.8:g.21869243_21869246delinsCAGA , CM000676.1:g.21869243_21869246delinsCAGA	GRCh37
NC_000014.7:g.20939083_20939086delinsCAGA	NCBI36
NG_021249.1:g.41212_41215delinsTCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.3337-16_3337-13delinsTCTG	ENSP00000406288.3:n.3337-16_3337-13delins...
ENST00000555935.2:c.1850-16_1850-13delinsTCTG
ENST00000555962.6:c.265-780_265-777delinsTCTG	ENSP00000495174.1:n.265-780_265-777delins...
ENST00000557364.6:c.4174-16_4174-13delinsTCTG	ENSP00000451601.1:n.4174-16_4174-13delins...
ENST00000643469.1:c.4174-16_4174-13delinsTCTG	ENSP00000495070.1:n.4174-16_4174-13delins...
ENST00000645206.1:n.2688-16_2688-13delinsTCTG
ENST00000645929.1:c.3337-16_3337-13delinsTCTG	ENSP00000494402.1:n.3337-16_3337-13delins...
ENST00000646340.1:c.4180-16_4180-13delinsTCTG	ENSP00000496730.1:n.4180-16_4180-13delins...
ENST00000646558.1:n.728-16_728-13delinsTCTG
ENST00000646647.2:c.4174-16_4174-13delinsTCTG MANE Select	ENSP00000495240.1:n.4174-16_4174-13delins...
ENST00000399982.6:c.4174-16_4174-13delinsTCTG	ENSP00000382863.2:n.4174-16_4174-13delins...
ENST00000430710.7:c.3337-16_3337-13delinsTCTG	ENSP00000406288.3:n.3337-16_3337-13delins...
ENST00000555935.1:c.1850-16_1850-13delinsTCTG
ENST00000555962.5:n.525-780_525-777delinsTCTG
ENST00000557364.5:c.4174-16_4174-13delinsTCTG	ENSP00000451601.1:n.4174-16_4174-13delins...
NM_001170629.1:c.4174-16_4174-13delinsTCTG	NP_001164100.1:n.4174-16_4174-13delinsTCT...
NM_020920.3:c.3337-16_3337-13delinsTCTG	NP_065971.2:n.3337-16_3337-13delinsTCTG
NM_001170629.2:c.4174-16_4174-13delinsTCTG MANE Select	NP_001164100.1:n.4174-16_4174-13delinsTCT...
NM_020920.4:c.3337-16_3337-13delinsTCTG	NP_065971.2:n.3337-16_3337-13delinsTCTG