Canonical Allele Identifier: CA1139660559

Gene: CHD7

Linked Data

• ClinVar Variation Id: 994418
• ClinVar RCV Id: RCV001810632
• dbSNP Id: rs1805560892

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853352del , CM000670.2:g.60853352del	GRCh38
NC_000008.10:g.61765911del , CM000670.1:g.61765911del	GRCh37
NC_000008.9:g.61928465del	NCBI36
NG_007009.1:g.179573del , LRG_176:g.179573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6627del	ENSP00000512218.1:p.Glu2210ArgfsTer5
ENST00000423902.7:c.6627del MANE Select	ENSP00000392028.1:p.Glu2210ArgfsTer5
ENST00000423902.6:c.6627del	ENSP00000392028.1:p.Glu2210ArgfsTer5
ENST00000524602.5:c.1717-8877del	ENSP00000437061.1:n.1717-8877del
NM_001316690.1:c.1717-8877del	NP_001303619.1:n.1717-8877del
NM_017780.3:c.6627del	NP_060250.2:p.Glu2210ArgfsTer5
XM_011517553.1:c.6717del	XP_011515855.1:p.Glu2240ArgfsTer5
XM_011517554.1:c.6717del	XP_011515856.1:p.Glu2240ArgfsTer5
XM_011517555.1:c.6717del	XP_011515857.1:p.Glu2240ArgfsTer5
XM_011517556.1:c.6717del	XP_011515858.1:p.Glu2240ArgfsTer5
XM_011517557.1:c.4704del	XP_011515859.1:p.Glu1569ArgfsTer5
XM_011517558.1:c.4254del	XP_011515860.1:p.Glu1419ArgfsTer5
XM_011517559.1:c.3462del	XP_011515861.1:p.Glu1155ArgfsTer5
XM_011517553.2:c.6717del	XP_011515855.1:p.Glu2240ArgfsTer5
XM_011517554.3:c.6717del	XP_011515856.1:p.Glu2240ArgfsTer5
XM_011517555.2:c.6717del	XP_011515857.1:p.Glu2240ArgfsTer5
XM_017013612.1:c.6717del	XP_016869101.1:p.Glu2240ArgfsTer5
XM_017013613.1:c.6627del	XP_016869102.1:p.Glu2210ArgfsTer5
NM_017780.4:c.6627del MANE Select	NP_060250.2:p.Glu2210ArgfsTer5