Canonical Allele Identifier: CA1788129120

Gene: CHD7

Linked Data

• dbSNP Id: rs1806176667

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865081_60865084dup , CM000670.2:g.60865081_60865084dup	GRCh38
NC_000008.10:g.61777640_61777643dup , CM000670.1:g.61777640_61777643dup	GRCh37
NC_000008.9:g.61940194_61940197dup	NCBI36
NG_007009.1:g.191302_191305dup , LRG_176:g.191302_191305dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1318_1321dup
ENST00000695852.1:n.249_252dup
ENST00000695853.1:c.*1201_*1204dup	ENSP00000512218.1:n.*1201_*1204dup
ENST00000423902.7:c.8142_8145dup MANE Select	ENSP00000392028.1:p.Arg2716GlufsTer10
ENST00000423902.6:c.8142_8145dup	ENSP00000392028.1:p.Arg2716GlufsTer10
ENST00000524602.5:c.1995_1998dup	ENSP00000437061.1:p.Arg667GlufsTer10
ENST00000528280.1:n.188_191dup
ENST00000532149.1:n.564_567dup
ENST00000618450.1:n.4178_4181dup
NM_001316690.1:c.1995_1998dup	NP_001303619.1:p.Arg667GlufsTer10
NM_017780.3:c.8142_8145dup	NP_060250.2:p.Arg2716GlufsTer10
XM_011517553.1:c.8232_8235dup	XP_011515855.1:p.Arg2746GlufsTer10
XM_011517554.1:c.8232_8235dup	XP_011515856.1:p.Arg2746GlufsTer10
XM_011517555.1:c.8229_8232dup	XP_011515857.1:p.Arg2745GlufsTer10
XM_011517556.1:c.8010_8013dup	XP_011515858.1:p.Arg2672GlufsTer10
XM_011517557.1:c.6219_6222dup	XP_011515859.1:p.Arg2075GlufsTer10
XM_011517558.1:c.5769_5772dup	XP_011515860.1:p.Arg1925GlufsTer10
XM_011517559.1:c.4977_4980dup	XP_011515861.1:p.Arg1661GlufsTer10
XM_011517553.2:c.8232_8235dup	XP_011515855.1:p.Arg2746GlufsTer10
XM_011517554.3:c.8232_8235dup	XP_011515856.1:p.Arg2746GlufsTer10
XM_011517555.2:c.8229_8232dup	XP_011515857.1:p.Arg2745GlufsTer10
XM_017013612.1:c.8232_8235dup	XP_016869101.1:p.Arg2746GlufsTer10
XM_017013613.1:c.8139_8142dup	XP_016869102.1:p.Arg2715GlufsTer10
NM_017780.4:c.8142_8145dup MANE Select	NP_060250.2:p.Arg2716GlufsTer10