Canonical Allele Identifier: CA2573143276

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1454010
• ClinVar RCV Id: RCV001939389
• dbSNP Id: rs2129761877

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865299del , CM000670.2:g.60865299del	GRCh38
NC_000008.10:g.61777858del , CM000670.1:g.61777858del	GRCh37
NC_000008.9:g.61940412del	NCBI36
NG_007009.1:g.191520del , LRG_176:g.191520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1536del
ENST00000695852.1:n.467del
ENST00000695853.1:c.*1419del	ENSP00000512218.1:n.*1419del
ENST00000423902.7:c.8360del MANE Select	ENSP00000392028.1:p.Gly2787AlafsTer12
ENST00000423902.6:c.8360del	ENSP00000392028.1:p.Gly2787AlafsTer12
ENST00000524602.5:c.2213del	ENSP00000437061.1:p.Gly738AlafsTer12
ENST00000528280.1:n.406del
NM_001316690.1:c.2213del	NP_001303619.1:p.Gly738AlafsTer12
NM_017780.3:c.8360del	NP_060250.2:p.Gly2787AlafsTer12
XM_011517553.1:c.8450del	XP_011515855.1:p.Gly2817AlafsTer12
XM_011517554.1:c.8450del	XP_011515856.1:p.Gly2817AlafsTer12
XM_011517555.1:c.8447del	XP_011515857.1:p.Gly2816AlafsTer12
XM_011517556.1:c.8228del	XP_011515858.1:p.Gly2743AlafsTer12
XM_011517557.1:c.6437del	XP_011515859.1:p.Gly2146AlafsTer12
XM_011517558.1:c.5987del	XP_011515860.1:p.Gly1996AlafsTer12
XM_011517559.1:c.5195del	XP_011515861.1:p.Gly1732AlafsTer12
XM_011517553.2:c.8450del	XP_011515855.1:p.Gly2817AlafsTer12
XM_011517554.3:c.8450del	XP_011515856.1:p.Gly2817AlafsTer12
XM_011517555.2:c.8447del	XP_011515857.1:p.Gly2816AlafsTer12
XM_017013612.1:c.8450del	XP_016869101.1:p.Gly2817AlafsTer12
XM_017013613.1:c.8357del	XP_016869102.1:p.Gly2786AlafsTer12
NM_017780.4:c.8360del MANE Select	NP_060250.2:p.Gly2787AlafsTer12