Canonical Allele Identifier: CA915945699

Gene: CHD7

Linked Data

• ClinVar Variation Id: 658937
• ClinVar RCV Id: RCV000815860
• dbSNP Id: rs1586426486

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60841854del , CM000670.2:g.60841854del	GRCh38
NC_000008.10:g.61754413del , CM000670.1:g.61754413del	GRCh37
NC_000008.9:g.61916967del	NCBI36
NG_007009.1:g.168075del , LRG_176:g.168075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.4652del	ENSP00000512218.1:p.Leu1551ArgfsTer8
ENST00000423902.7:c.4652del MANE Select	ENSP00000392028.1:p.Leu1551ArgfsTer8
ENST00000423902.6:c.4652del	ENSP00000392028.1:p.Leu1551ArgfsTer8
ENST00000524602.5:c.1717-20375del	ENSP00000437061.1:n.1717-20375del
NM_001316690.1:c.1717-20375del	NP_001303619.1:n.1717-20375del
NM_017780.3:c.4652del	NP_060250.2:p.Leu1551ArgfsTer8
XM_011517553.1:c.4652del	XP_011515855.1:p.Leu1551ArgfsTer8
XM_011517554.1:c.4652del	XP_011515856.1:p.Leu1551ArgfsTer8
XM_011517555.1:c.4652del	XP_011515857.1:p.Leu1551ArgfsTer8
XM_011517556.1:c.4652del	XP_011515858.1:p.Leu1551ArgfsTer8
XM_011517557.1:c.2639del	XP_011515859.1:p.Leu880ArgfsTer8
XM_011517558.1:c.2189del	XP_011515860.1:p.Leu730ArgfsTer8
XM_011517559.1:c.1397del	XP_011515861.1:p.Leu466ArgfsTer8
XM_011517560.1:c.4652del	XP_011515862.1:p.Leu1551ArgfsTer8
XM_011517553.2:c.4652del	XP_011515855.1:p.Leu1551ArgfsTer8
XM_011517554.3:c.4652del	XP_011515856.1:p.Leu1551ArgfsTer8
XM_011517555.2:c.4652del	XP_011515857.1:p.Leu1551ArgfsTer8
XM_011517560.2:c.4652del	XP_011515862.1:p.Leu1551ArgfsTer8
XM_017013612.1:c.4652del	XP_016869101.1:p.Leu1551ArgfsTer8
XM_017013613.1:c.4652del	XP_016869102.1:p.Leu1551ArgfsTer8
NM_017780.4:c.4652del MANE Select	NP_060250.2:p.Leu1551ArgfsTer8