Canonical Allele Identifier: CA2573143261

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1452118
• ClinVar RCV Id: RCV002007561
• dbSNP Id: rs2150786530

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60841869dup , CM000670.2:g.60841869dup	GRCh38
NC_000008.10:g.61754428dup , CM000670.1:g.61754428dup	GRCh37
NC_000008.9:g.61916982dup	NCBI36
NG_007009.1:g.168090dup , LRG_176:g.168090dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.4667dup	ENSP00000512218.1:p.Arg1557LysfsTer16
ENST00000423902.7:c.4667dup MANE Select	ENSP00000392028.1:p.Arg1557LysfsTer16
ENST00000423902.6:c.4667dup	ENSP00000392028.1:p.Arg1557LysfsTer16
ENST00000524602.5:c.1717-20360dup	ENSP00000437061.1:n.1717-20360dup
NM_001316690.1:c.1717-20360dup	NP_001303619.1:n.1717-20360dup
NM_017780.3:c.4667dup	NP_060250.2:p.Arg1557LysfsTer16
XM_011517553.1:c.4667dup	XP_011515855.1:p.Arg1557LysfsTer16
XM_011517554.1:c.4667dup	XP_011515856.1:p.Arg1557LysfsTer16
XM_011517555.1:c.4667dup	XP_011515857.1:p.Arg1557LysfsTer16
XM_011517556.1:c.4667dup	XP_011515858.1:p.Arg1557LysfsTer16
XM_011517557.1:c.2654dup	XP_011515859.1:p.Arg886LysfsTer16
XM_011517558.1:c.2204dup	XP_011515860.1:p.Arg736LysfsTer16
XM_011517559.1:c.1412dup	XP_011515861.1:p.Arg472LysfsTer16
XM_011517560.1:c.4667dup	XP_011515862.1:p.Arg1557LysfsTer16
XM_011517553.2:c.4667dup	XP_011515855.1:p.Arg1557LysfsTer16
XM_011517554.3:c.4667dup	XP_011515856.1:p.Arg1557LysfsTer16
XM_011517555.2:c.4667dup	XP_011515857.1:p.Arg1557LysfsTer16
XM_011517560.2:c.4667dup	XP_011515862.1:p.Arg1557LysfsTer16
XM_017013612.1:c.4667dup	XP_016869101.1:p.Arg1557LysfsTer16
XM_017013613.1:c.4667dup	XP_016869102.1:p.Arg1557LysfsTer16
NM_017780.4:c.4667dup MANE Select	NP_060250.2:p.Arg1557LysfsTer16