Canonical Allele Identifier: CA1788133542

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848509_60848528delinsCTCCAGGGTCCTGCTGCGTG , CM000670.2:g.60848509_60848528delinsCTCCAGGGTCCTGCTGCGTG	GRCh38
NC_000008.10:g.61761068_61761087delinsCTCCAGGGTCCTGCTGCGTG , CM000670.1:g.61761068_61761087delinsCTCCAGGGTCCTGCTGCGTG	GRCh37
NC_000008.9:g.61923622_61923641delinsCTCCAGGGTCCTGCTGCGTG	NCBI36
NG_007009.1:g.174730_174749delinsCTCCAGGGTCCTGCTGCGTG , LRG_176:g.174730_174749delinsCTCCAGGGTCCTGCTGCGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.5211-6_5224delinsCTCCAGGGTCCTGCTGCGTG
ENST00000423902.7:c.5211-6_5224delinsCTCCAGGGTCCTGCTGCGTG
ENST00000423902.6:c.5211-6_5224delinsCTCCAGGGTCCTGCTGCGTG
ENST00000524602.5:c.1717-13720_1717-13701delinsCTCCAGGGTCCTGCTGCGTG	ENSP00000437061.1:n.1717-13720_1717-13701...
NM_001316690.1:c.1717-13720_1717-13701delinsCTCCAGGGTCCTGCTGCGTG	NP_001303619.1:n.1717-13720_1717-13701del...
NM_017780.3:c.5211-6_5224delinsCTCCAGGGTCCTGCTGCGTG
XM_011517553.1:c.5301-6_5314delinsCTCCAGGGTCCTGCTGCGTG
XM_011517554.1:c.5301-6_5314delinsCTCCAGGGTCCTGCTGCGTG
XM_011517555.1:c.5301-6_5314delinsCTCCAGGGTCCTGCTGCGTG
XM_011517556.1:c.5301-6_5314delinsCTCCAGGGTCCTGCTGCGTG
XM_011517557.1:c.3288-6_3301delinsCTCCAGGGTCCTGCTGCGTG
XM_011517558.1:c.2838-6_2851delinsCTCCAGGGTCCTGCTGCGTG
XM_011517559.1:c.2046-6_2059delinsCTCCAGGGTCCTGCTGCGTG
XM_011517553.2:c.5301-6_5314delinsCTCCAGGGTCCTGCTGCGTG
XM_011517554.3:c.5301-6_5314delinsCTCCAGGGTCCTGCTGCGTG
XM_011517555.2:c.5301-6_5314delinsCTCCAGGGTCCTGCTGCGTG
XM_017013612.1:c.5301-6_5314delinsCTCCAGGGTCCTGCTGCGTG
XM_017013613.1:c.5211-6_5224delinsCTCCAGGGTCCTGCTGCGTG
NM_017780.4:c.5211-6_5224delinsCTCCAGGGTCCTGCTGCGTG