Canonical Allele Identifier: CA2573143264

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1687695
• ClinVar RCV Id: RCV002251669
• dbSNP Id: rs2150786931

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60842018_60842020delinsGGC , CM000670.2:g.60842018_60842020delinsGGC	GRCh38
NC_000008.10:g.61754577_61754579delinsGGC , CM000670.1:g.61754577_61754579delinsGGC	GRCh37
NC_000008.9:g.61917131_61917133delinsGGC	NCBI36
NG_007009.1:g.168239_168241delinsGGC , LRG_176:g.168239_168241delinsGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.4816_4818delinsGGC	ENSP00000512218.1:p.Cys1606Gly
ENST00000423902.7:c.4816_4818delinsGGC MANE Select	ENSP00000392028.1:p.Cys1606Gly
ENST00000423902.6:c.4816_4818delinsGGC	ENSP00000392028.1:p.Cys1606Gly
ENST00000524602.5:c.1717-20211_1717-20209delinsGGC	ENSP00000437061.1:n.1717-20211_1717-20209delinsGGC
NM_001316690.1:c.1717-20211_1717-20209delinsGGC	NP_001303619.1:n.1717-20211_1717-20209delinsGGC
NM_017780.3:c.4816_4818delinsGGC	NP_060250.2:p.Cys1606Gly
XM_011517553.1:c.4816_4818delinsGGC	XP_011515855.1:p.Cys1606Gly
XM_011517554.1:c.4816_4818delinsGGC	XP_011515856.1:p.Cys1606Gly
XM_011517555.1:c.4816_4818delinsGGC	XP_011515857.1:p.Cys1606Gly
XM_011517556.1:c.4816_4818delinsGGC	XP_011515858.1:p.Cys1606Gly
XM_011517557.1:c.2803_2805delinsGGC	XP_011515859.1:p.Cys935Gly
XM_011517558.1:c.2353_2355delinsGGC	XP_011515860.1:p.Cys785Gly
XM_011517559.1:c.1561_1563delinsGGC	XP_011515861.1:p.Cys521Gly
XM_011517560.1:c.4816_4818delinsGGC	XP_011515862.1:p.Cys1606Gly
XM_011517553.2:c.4816_4818delinsGGC	XP_011515855.1:p.Cys1606Gly
XM_011517554.3:c.4816_4818delinsGGC	XP_011515856.1:p.Cys1606Gly
XM_011517555.2:c.4816_4818delinsGGC	XP_011515857.1:p.Cys1606Gly
XM_011517560.2:c.4816_4818delinsGGC	XP_011515862.1:p.Cys1606Gly
XM_017013612.1:c.4816_4818delinsGGC	XP_016869101.1:p.Cys1606Gly
XM_017013613.1:c.4816_4818delinsGGC	XP_016869102.1:p.Cys1606Gly
NM_017780.4:c.4816_4818delinsGGC MANE Select	NP_060250.2:p.Cys1606Gly