Canonical Allele Identifier: CA16618683
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 419284
ClinVar RCV Id: RCV000481551
dbSNP Id: rs1064793769

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60860924del , CM000670.2:g.60860924del GRCh38
NC_000008.10:g.61773483del , CM000670.1:g.61773483del GRCh37
NC_000008.9:g.61936037del NCBI36
NG_007009.1:g.187145del , LRG_176:g.187145del

Transcript Alleles

HGVS Amino-acid change
ENST00000695850.1:n.805del
ENST00000695851.1:n.9del
ENST00000695853.1:c.*688del ENSP00000512218.1:n.*688del
ENST00000423902.7:c.7629del MANE Select ENSP00000392028.1:p.Ala2544LeufsTer6
ENST00000423902.6:c.7629del ENSP00000392028.1:p.Ala2544LeufsTer6
ENST00000524602.5:c.1717-1305del ENSP00000437061.1:n.1717-1305del
ENST00000531695.1:n.53del
ENST00000618450.1:n.21del
NM_001316690.1:c.1717-1305del NP_001303619.1:n.1717-1305del
NM_017780.3:c.7629del NP_060250.2:p.Ala2544LeufsTer6
XM_011517553.1:c.7719del XP_011515855.1:p.Ala2574LeufsTer6
XM_011517554.1:c.7719del XP_011515856.1:p.Ala2574LeufsTer6
XM_011517555.1:c.7716del XP_011515857.1:p.Ala2573LeufsTer6
XM_011517556.1:c.7699-1272del XP_011515858.1:n.7699-1272del
XM_011517557.1:c.5706del XP_011515859.1:p.Ala1903LeufsTer6
XM_011517558.1:c.5256del XP_011515860.1:p.Ala1753LeufsTer6
XM_011517559.1:c.4464del XP_011515861.1:p.Ala1489LeufsTer6
XM_011517553.2:c.7719del XP_011515855.1:p.Ala2574LeufsTer6
XM_011517554.3:c.7719del XP_011515856.1:p.Ala2574LeufsTer6
XM_011517555.2:c.7716del XP_011515857.1:p.Ala2573LeufsTer6
XM_017013612.1:c.7719del XP_016869101.1:p.Ala2574LeufsTer6
XM_017013613.1:c.7626del XP_016869102.1:p.Ala2543LeufsTer6
NM_017780.4:c.7629del MANE Select NP_060250.2:p.Ala2544LeufsTer6