Canonical Allele Identifier: CA16609837
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 403716
ClinVar RCV Id: RCV000474707
dbSNP Id: rs1060499560

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60853017del , CM000670.2:g.60853017del GRCh38
NC_000008.10:g.61765576del , CM000670.1:g.61765576del GRCh37
NC_000008.9:g.61928130del NCBI36
NG_007009.1:g.179238del , LRG_176:g.179238del

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.6292del ENSP00000512218.1:p.Arg2098GlufsTer?
ENST00000423902.7:c.6292del MANE Select ENSP00000392028.1:p.Arg2098GlufsTer?
ENST00000423902.6:c.6292del ENSP00000392028.1:p.Arg2098GlufsTer?
ENST00000524602.5:c.1717-9212del ENSP00000437061.1:n.1717-9212del
NM_001316690.1:c.1717-9212del NP_001303619.1:n.1717-9212del
NM_017780.3:c.6292del NP_060250.2:p.Arg2098GlufsTer?
XM_011517553.1:c.6382del XP_011515855.1:p.Arg2128GlufsTer?
XM_011517554.1:c.6382del XP_011515856.1:p.Arg2128GlufsTer?
XM_011517555.1:c.6382del XP_011515857.1:p.Arg2128GlufsTer?
XM_011517556.1:c.6382del XP_011515858.1:p.Arg2128GlufsTer?
XM_011517557.1:c.4369del XP_011515859.1:p.Arg1457GlufsTer?
XM_011517558.1:c.3919del XP_011515860.1:p.Arg1307GlufsTer?
XM_011517559.1:c.3127del XP_011515861.1:p.Arg1043GlufsTer?
XM_011517553.2:c.6382del XP_011515855.1:p.Arg2128GlufsTer?
XM_011517554.3:c.6382del XP_011515856.1:p.Arg2128GlufsTer?
XM_011517555.2:c.6382del XP_011515857.1:p.Arg2128GlufsTer?
XM_017013612.1:c.6382del XP_016869101.1:p.Arg2128GlufsTer?
XM_017013613.1:c.6292del XP_016869102.1:p.Arg2098GlufsTer?
NM_017780.4:c.6292del MANE Select NP_060250.2:p.Arg2098GlufsTer?