Canonical Allele Identifier: CA10604070

Gene: CHD7

Linked Data

• ClinVar Variation Id: 282110
• ClinVar RCV Id: RCV000406220
• dbSNP Id: rs886042312
• MyVariant Identifiers: chr8:g.61773495_61773505del (hg19) ; chr8:g.60860936_60860946del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860936_60860946del , CM000670.2:g.60860936_60860946del	GRCh38
NC_000008.10:g.61773495_61773505del , CM000670.1:g.61773495_61773505del	GRCh37
NC_000008.9:g.61936049_61936059del	NCBI36
NG_007009.1:g.187157_187167del , LRG_176:g.187157_187167del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695850.1:n.817_827del
ENST00000695851.1:n.21_31del
ENST00000695853.1:c.*700_*710del	ENSP00000512218.1:n.*700_*710del
ENST00000423902.7:c.7641_7651del MANE Select	ENSP00000392028.1:p.Glu2547AspfsTer25
ENST00000423902.6:c.7641_7651del	ENSP00000392028.1:p.Glu2547AspfsTer25
ENST00000524602.5:c.1717-1293_1717-1283del	ENSP00000437061.1:n.1717-1293_1717-1283de...
ENST00000531695.1:n.65_75del
ENST00000618450.1:n.33_43del
NM_001316690.1:c.1717-1293_1717-1283del	NP_001303619.1:n.1717-1293_1717-1283del
NM_017780.3:c.7641_7651del	NP_060250.2:p.Glu2547AspfsTer25
XM_011517553.1:c.7731_7741del	XP_011515855.1:p.Glu2577AspfsTer25
XM_011517554.1:c.7731_7741del	XP_011515856.1:p.Glu2577AspfsTer25
XM_011517555.1:c.7728_7738del	XP_011515857.1:p.Glu2576AspfsTer25
XM_011517556.1:c.7699-1260_7699-1250del	XP_011515858.1:n.7699-1260_7699-1250del
XM_011517557.1:c.5718_5728del	XP_011515859.1:p.Glu1906AspfsTer25
XM_011517558.1:c.5268_5278del	XP_011515860.1:p.Glu1756AspfsTer25
XM_011517559.1:c.4476_4486del	XP_011515861.1:p.Glu1492AspfsTer25
XM_011517553.2:c.7731_7741del	XP_011515855.1:p.Glu2577AspfsTer25
XM_011517554.3:c.7731_7741del	XP_011515856.1:p.Glu2577AspfsTer25
XM_011517555.2:c.7728_7738del	XP_011515857.1:p.Glu2576AspfsTer25
XM_017013612.1:c.7731_7741del	XP_016869101.1:p.Glu2577AspfsTer25
XM_017013613.1:c.7638_7648del	XP_016869102.1:p.Glu2546AspfsTer25
NM_017780.4:c.7641_7651del MANE Select	NP_060250.2:p.Glu2547AspfsTer25