Canonical Allele Identifier: CA16618686
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 419129
ClinVar RCV Id: RCV000479418
dbSNP Id: rs1064793664

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60865457del , CM000670.2:g.60865457del GRCh38
NC_000008.10:g.61778016del , CM000670.1:g.61778016del GRCh37
NC_000008.9:g.61940570del NCBI36
NG_007009.1:g.191678del , LRG_176:g.191678del

Transcript Alleles

HGVS Amino-acid change
ENST00000695850.1:n.1694del
ENST00000695852.1:n.625del
ENST00000695853.1:c.*1577del ENSP00000512218.1:n.*1577del
ENST00000423902.7:c.8518del MANE Select ENSP00000392028.1:p.Thr2840LeufsTer?
ENST00000423902.6:c.8518del ENSP00000392028.1:p.Thr2840LeufsTer?
ENST00000524602.5:c.2371del ENSP00000437061.1:p.Thr791LeufsTer?
ENST00000528280.1:n.564del
NM_001316690.1:c.2371del NP_001303619.1:p.Thr791LeufsTer?
NM_017780.3:c.8518del NP_060250.2:p.Thr2840LeufsTer?
XM_011517553.1:c.8608del XP_011515855.1:p.Thr2870LeufsTer?
XM_011517554.1:c.8608del XP_011515856.1:p.Thr2870LeufsTer?
XM_011517555.1:c.8605del XP_011515857.1:p.Thr2869LeufsTer?
XM_011517556.1:c.8386del XP_011515858.1:p.Thr2796LeufsTer?
XM_011517557.1:c.6595del XP_011515859.1:p.Thr2199LeufsTer?
XM_011517558.1:c.6145del XP_011515860.1:p.Thr2049LeufsTer?
XM_011517559.1:c.5353del XP_011515861.1:p.Thr1785LeufsTer?
XM_011517553.2:c.8608del XP_011515855.1:p.Thr2870LeufsTer?
XM_011517554.3:c.8608del XP_011515856.1:p.Thr2870LeufsTer?
XM_011517555.2:c.8605del XP_011515857.1:p.Thr2869LeufsTer?
XM_017013612.1:c.8608del XP_016869101.1:p.Thr2870LeufsTer?
XM_017013613.1:c.8515del XP_016869102.1:p.Thr2839LeufsTer?
NM_017780.4:c.8518del MANE Select NP_060250.2:p.Thr2840LeufsTer?