Canonical Allele Identifier: CA2695209402

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852673del , CM000670.2:g.60852673del	GRCh38
NC_000008.10:g.61765232del , CM000670.1:g.61765232del	GRCh37
NC_000008.9:g.61927786del	NCBI36
NG_007009.1:g.178894del , LRG_176:g.178894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6070del	ENSP00000512218.1:p.Arg2024GlufsTer19
ENST00000423902.7:c.6070del MANE Select	ENSP00000392028.1:p.Arg2024GlufsTer19
ENST00000423902.6:c.6070del	ENSP00000392028.1:p.Arg2024GlufsTer19
ENST00000524602.5:c.1717-9556del	ENSP00000437061.1:n.1717-9556del
NM_001316690.1:c.1717-9556del	NP_001303619.1:n.1717-9556del
NM_017780.3:c.6070del	NP_060250.2:p.Arg2024GlufsTer19
XM_011517553.1:c.6160del	XP_011515855.1:p.Arg2054GlufsTer19
XM_011517554.1:c.6160del	XP_011515856.1:p.Arg2054GlufsTer19
XM_011517555.1:c.6160del	XP_011515857.1:p.Arg2054GlufsTer19
XM_011517556.1:c.6160del	XP_011515858.1:p.Arg2054GlufsTer19
XM_011517557.1:c.4147del	XP_011515859.1:p.Arg1383GlufsTer19
XM_011517558.1:c.3697del	XP_011515860.1:p.Arg1233GlufsTer19
XM_011517559.1:c.2905del	XP_011515861.1:p.Arg969GlufsTer19
XM_011517553.2:c.6160del	XP_011515855.1:p.Arg2054GlufsTer19
XM_011517554.3:c.6160del	XP_011515856.1:p.Arg2054GlufsTer19
XM_011517555.2:c.6160del	XP_011515857.1:p.Arg2054GlufsTer19
XM_017013612.1:c.6160del	XP_016869101.1:p.Arg2054GlufsTer19
XM_017013613.1:c.6070del	XP_016869102.1:p.Arg2024GlufsTer19
NM_017780.4:c.6070del MANE Select	NP_060250.2:p.Arg2024GlufsTer19