Canonical Allele Identifier: CA915945700

Gene: CHD7

Linked Data

• ClinVar Variation Id: 704321
• ClinVar RCV Id: RCV001408169
• dbSNP Id: rs1586437092

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848512del , CM000670.2:g.60848512del	GRCh38
NC_000008.10:g.61761071del , CM000670.1:g.61761071del	GRCh37
NC_000008.9:g.61923625del	NCBI36
NG_007009.1:g.174733del , LRG_176:g.174733del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.5211-3del	ENSP00000512218.1:n.5211-3del
ENST00000423902.7:c.5211-3del MANE Select	ENSP00000392028.1:n.5211-3del
ENST00000423902.6:c.5211-3del	ENSP00000392028.1:n.5211-3del
ENST00000524602.5:c.1717-13717del	ENSP00000437061.1:n.1717-13717del
NM_001316690.1:c.1717-13717del	NP_001303619.1:n.1717-13717del
NM_017780.3:c.5211-3del	NP_060250.2:n.5211-3del
XM_011517553.1:c.5301-3del	XP_011515855.1:n.5301-3del
XM_011517554.1:c.5301-3del	XP_011515856.1:n.5301-3del
XM_011517555.1:c.5301-3del	XP_011515857.1:n.5301-3del
XM_011517556.1:c.5301-3del	XP_011515858.1:n.5301-3del
XM_011517557.1:c.3288-3del	XP_011515859.1:n.3288-3del
XM_011517558.1:c.2838-3del	XP_011515860.1:n.2838-3del
XM_011517559.1:c.2046-3del	XP_011515861.1:n.2046-3del
XM_011517553.2:c.5301-3del	XP_011515855.1:n.5301-3del
XM_011517554.3:c.5301-3del	XP_011515856.1:n.5301-3del
XM_011517555.2:c.5301-3del	XP_011515857.1:n.5301-3del
XM_017013612.1:c.5301-3del	XP_016869101.1:n.5301-3del
XM_017013613.1:c.5211-3del	XP_016869102.1:n.5211-3del
NM_017780.4:c.5211-3del MANE Select	NP_060250.2:n.5211-3del