Canonical Allele Identifier: CA2697549943

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2711266
• ClinVar RCV Id: RCV003499020

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60742469_60742478del , CM000670.2:g.60742469_60742478del	GRCh38
NC_000008.10:g.61655028_61655037del , CM000670.1:g.61655028_61655037del	GRCh37
NC_000008.9:g.61817582_61817591del	NCBI36
NG_007009.1:g.68690_68699del , LRG_176:g.68690_68699del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695848.1:n.1550_1559del
ENST00000695849.1:n.1550_1559del
ENST00000695853.1:c.1037_1046del	ENSP00000512218.1:p.Arg346MetfsTer3
ENST00000700671.1:c.1037_1046del	ENSP00000515139.1:p.Arg346MetfsTer3
ENST00000423902.7:c.1037_1046del MANE Select	ENSP00000392028.1:p.Arg346MetfsTer3
ENST00000423902.6:c.1037_1046del	ENSP00000392028.1:p.Arg346MetfsTer3
ENST00000524602.5:c.1037_1046del	ENSP00000437061.1:p.Arg346MetfsTer3
ENST00000525508.1:c.1037_1046del	ENSP00000436027.1:p.Arg346MetfsTer3
ENST00000527825.1:c.32-351_32-342del
NM_001316690.1:c.1037_1046del	NP_001303619.1:p.Arg346MetfsTer3
NM_017780.3:c.1037_1046del	NP_060250.2:p.Arg346MetfsTer3
XM_011517553.1:c.1037_1046del	XP_011515855.1:p.Arg346MetfsTer3
XM_011517554.1:c.1037_1046del	XP_011515856.1:p.Arg346MetfsTer3
XM_011517555.1:c.1037_1046del	XP_011515857.1:p.Arg346MetfsTer3
XM_011517556.1:c.1037_1046del	XP_011515858.1:p.Arg346MetfsTer3
XM_011517560.1:c.1037_1046del	XP_011515862.1:p.Arg346MetfsTer3
XM_011517553.2:c.1037_1046del	XP_011515855.1:p.Arg346MetfsTer3
XM_011517554.3:c.1037_1046del	XP_011515856.1:p.Arg346MetfsTer3
XM_011517555.2:c.1037_1046del	XP_011515857.1:p.Arg346MetfsTer3
XM_011517560.2:c.1037_1046del	XP_011515862.1:p.Arg346MetfsTer3
XM_017013612.1:c.1037_1046del	XP_016869101.1:p.Arg346MetfsTer3
XM_017013613.1:c.1037_1046del	XP_016869102.1:p.Arg346MetfsTer3
NM_017780.4:c.1037_1046del MANE Select	NP_060250.2:p.Arg346MetfsTer3