Canonical Allele Identifier: CA1788120765

Gene: CHD7

Linked Data

• ClinVar Variation Id: 973215
• ClinVar RCV Id: RCV001249610
• dbSNP Id: rs1805943625

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860996_60860997del , CM000670.2:g.60860996_60860997del	GRCh38
NC_000008.10:g.61773555_61773556del , CM000670.1:g.61773555_61773556del	GRCh37
NC_000008.9:g.61936109_61936110del	NCBI36
NG_007009.1:g.187217_187218del , LRG_176:g.187217_187218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.877_878del
ENST00000695851.1:n.81_82del
ENST00000695853.1:c.*760_*761del	ENSP00000512218.1:n.*760_*761del
ENST00000423902.7:c.7701_7702del MANE Select	ENSP00000392028.1:p.Arg2568AspfsTer7
ENST00000423902.6:c.7701_7702del	ENSP00000392028.1:p.Arg2568AspfsTer7
ENST00000524602.5:c.1717-1233_1717-1232del	ENSP00000437061.1:n.1717-1233_1717-1232del
ENST00000531695.1:n.125_126del
ENST00000618450.1:n.93_94del
NM_001316690.1:c.1717-1233_1717-1232del	NP_001303619.1:n.1717-1233_1717-1232del
NM_017780.3:c.7701_7702del	NP_060250.2:p.Arg2568AspfsTer7
XM_011517553.1:c.7791_7792del	XP_011515855.1:p.Arg2598AspfsTer7
XM_011517554.1:c.7791_7792del	XP_011515856.1:p.Arg2598AspfsTer7
XM_011517555.1:c.7788_7789del	XP_011515857.1:p.Arg2597AspfsTer7
XM_011517556.1:c.7699-1200_7699-1199del	XP_011515858.1:n.7699-1200_7699-1199del
XM_011517557.1:c.5778_5779del	XP_011515859.1:p.Arg1927AspfsTer7
XM_011517558.1:c.5328_5329del	XP_011515860.1:p.Arg1777AspfsTer7
XM_011517559.1:c.4536_4537del	XP_011515861.1:p.Arg1513AspfsTer7
XM_011517553.2:c.7791_7792del	XP_011515855.1:p.Arg2598AspfsTer7
XM_011517554.3:c.7791_7792del	XP_011515856.1:p.Arg2598AspfsTer7
XM_011517555.2:c.7788_7789del	XP_011515857.1:p.Arg2597AspfsTer7
XM_017013612.1:c.7791_7792del	XP_016869101.1:p.Arg2598AspfsTer7
XM_017013613.1:c.7698_7699del	XP_016869102.1:p.Arg2567AspfsTer7
NM_017780.4:c.7701_7702del MANE Select	NP_060250.2:p.Arg2568AspfsTer7