Canonical Allele Identifier: CA2499219378

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1070672
• ClinVar RCV Id: RCV001382918
• dbSNP Id: rs2129704530

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861005del , CM000670.2:g.60861005del	GRCh38
NC_000008.10:g.61773564del , CM000670.1:g.61773564del	GRCh37
NC_000008.9:g.61936118del	NCBI36
NG_007009.1:g.187226del , LRG_176:g.187226del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.886del
ENST00000695851.1:n.90del
ENST00000695853.1:c.*769del	ENSP00000512218.1:n.*769del
ENST00000423902.7:c.7710del MANE Select	ENSP00000392028.1:p.Val2571LeufsTer21
ENST00000423902.6:c.7710del	ENSP00000392028.1:p.Val2571LeufsTer21
ENST00000524602.5:c.1717-1224del	ENSP00000437061.1:n.1717-1224del
ENST00000531695.1:n.134del
ENST00000618450.1:n.102del
NM_001316690.1:c.1717-1224del	NP_001303619.1:n.1717-1224del
NM_017780.3:c.7710del	NP_060250.2:p.Val2571LeufsTer21
XM_011517553.1:c.7800del	XP_011515855.1:p.Val2601LeufsTer21
XM_011517554.1:c.7800del	XP_011515856.1:p.Val2601LeufsTer21
XM_011517555.1:c.7797del	XP_011515857.1:p.Val2600LeufsTer21
XM_011517556.1:c.7699-1191del	XP_011515858.1:n.7699-1191del
XM_011517557.1:c.5787del	XP_011515859.1:p.Val1930LeufsTer21
XM_011517558.1:c.5337del	XP_011515860.1:p.Val1780LeufsTer21
XM_011517559.1:c.4545del	XP_011515861.1:p.Val1516LeufsTer21
XM_011517553.2:c.7800del	XP_011515855.1:p.Val2601LeufsTer21
XM_011517554.3:c.7800del	XP_011515856.1:p.Val2601LeufsTer21
XM_011517555.2:c.7797del	XP_011515857.1:p.Val2600LeufsTer21
XM_017013612.1:c.7800del	XP_016869101.1:p.Val2601LeufsTer21
XM_017013613.1:c.7707del	XP_016869102.1:p.Val2570LeufsTer21
NM_017780.4:c.7710del MANE Select	NP_060250.2:p.Val2571LeufsTer21