Canonical Allele Identifier: CA658683506
Gene: CHD7 HGNC NCBI

Linked Data

dbSNP Id: rs1554581674

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60742774_60742775del , CM000670.2:g.60742774_60742775del GRCh38
NC_000008.10:g.61655333_61655334del , CM000670.1:g.61655333_61655334del GRCh37
NC_000008.9:g.61817887_61817888del NCBI36
NG_007009.1:g.68995_68996del , LRG_176:g.68995_68996del

Transcript Alleles

HGVS Amino-acid change
ENST00000695848.1:n.1855_1856del
ENST00000695849.1:n.1855_1856del
ENST00000695853.1:c.1342_1343del ENSP00000512218.1:p.Arg448GlufsTer?
ENST00000700671.1:c.1342_1343del ENSP00000515139.1:p.Arg448GlufsTer?
ENST00000423902.7:c.1342_1343del MANE Select ENSP00000392028.1:p.Arg448GlufsTer?
ENST00000423902.6:c.1342_1343del ENSP00000392028.1:p.Arg448GlufsTer?
ENST00000524602.5:c.1342_1343del ENSP00000437061.1:p.Arg448GlufsTer?
ENST00000525508.1:c.1342_1343del ENSP00000436027.1:p.Arg448GlufsTer?
ENST00000527825.1:c.32-46_32-45del
NM_001316690.1:c.1342_1343del NP_001303619.1:p.Arg448GlufsTer?
NM_017780.3:c.1342_1343del NP_060250.2:p.Arg448GlufsTer?
XM_011517553.1:c.1342_1343del XP_011515855.1:p.Arg448GlufsTer?
XM_011517554.1:c.1342_1343del XP_011515856.1:p.Arg448GlufsTer?
XM_011517555.1:c.1342_1343del XP_011515857.1:p.Arg448GlufsTer?
XM_011517556.1:c.1342_1343del XP_011515858.1:p.Arg448GlufsTer?
XM_011517560.1:c.1342_1343del XP_011515862.1:p.Arg448GlufsTer?
XM_011517553.2:c.1342_1343del XP_011515855.1:p.Arg448GlufsTer?
XM_011517554.3:c.1342_1343del XP_011515856.1:p.Arg448GlufsTer?
XM_011517555.2:c.1342_1343del XP_011515857.1:p.Arg448GlufsTer?
XM_011517560.2:c.1342_1343del XP_011515862.1:p.Arg448GlufsTer?
XM_017013612.1:c.1342_1343del XP_016869101.1:p.Arg448GlufsTer?
XM_017013613.1:c.1342_1343del XP_016869102.1:p.Arg448GlufsTer?
NM_017780.4:c.1342_1343del MANE Select NP_060250.2:p.Arg448GlufsTer?