Canonical Allele Identifier: CA2695209665

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60822662dup , CM000670.2:g.60822662dup	GRCh38
NC_000008.10:g.61735221dup , CM000670.1:g.61735221dup	GRCh37
NC_000008.9:g.61897775dup	NCBI36
NG_007009.1:g.148883dup , LRG_176:g.148883dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.3117dup	ENSP00000512218.1:p.Glu1040ArgfsTer13
ENST00000423902.7:c.3117dup MANE Select	ENSP00000392028.1:p.Glu1040ArgfsTer13
ENST00000423902.6:c.3117dup	ENSP00000392028.1:p.Glu1040ArgfsTer13
ENST00000524602.5:c.1717-39567dup	ENSP00000437061.1:n.1717-39567dup
ENST00000525508.1:c.3117dup	ENSP00000436027.1:p.Glu1040ArgfsTer13
NM_001316690.1:c.1717-39567dup	NP_001303619.1:n.1717-39567dup
NM_017780.3:c.3117dup	NP_060250.2:p.Glu1040ArgfsTer13
XM_011517553.1:c.3117dup	XP_011515855.1:p.Glu1040ArgfsTer13
XM_011517554.1:c.3117dup	XP_011515856.1:p.Glu1040ArgfsTer13
XM_011517555.1:c.3117dup	XP_011515857.1:p.Glu1040ArgfsTer13
XM_011517556.1:c.3117dup	XP_011515858.1:p.Glu1040ArgfsTer13
XM_011517557.1:c.1104dup	XP_011515859.1:p.Glu369ArgfsTer13
XM_011517558.1:c.654dup	XP_011515860.1:p.Glu219ArgfsTer13
XM_011517560.1:c.3117dup	XP_011515862.1:p.Glu1040ArgfsTer13
XM_011517553.2:c.3117dup	XP_011515855.1:p.Glu1040ArgfsTer13
XM_011517554.3:c.3117dup	XP_011515856.1:p.Glu1040ArgfsTer13
XM_011517555.2:c.3117dup	XP_011515857.1:p.Glu1040ArgfsTer13
XM_011517560.2:c.3117dup	XP_011515862.1:p.Glu1040ArgfsTer13
XM_017013612.1:c.3117dup	XP_016869101.1:p.Glu1040ArgfsTer13
XM_017013613.1:c.3117dup	XP_016869102.1:p.Glu1040ArgfsTer13
NM_017780.4:c.3117dup MANE Select	NP_060250.2:p.Glu1040ArgfsTer13