Canonical Allele Identifier: CA2580078852

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1709788
• ClinVar RCV Id: RCV002290130

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852961del , CM000670.2:g.60852961del	GRCh38
NC_000008.10:g.61765520del , CM000670.1:g.61765520del	GRCh37
NC_000008.9:g.61928074del	NCBI36
NG_007009.1:g.179182del , LRG_176:g.179182del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.6236del	ENSP00000512218.1:p.Lys2079SerfsTer?
ENST00000423902.7:c.6236del MANE Select	ENSP00000392028.1:p.Lys2079SerfsTer?
ENST00000423902.6:c.6236del	ENSP00000392028.1:p.Lys2079SerfsTer?
ENST00000524602.5:c.1717-9268del	ENSP00000437061.1:n.1717-9268del
NM_001316690.1:c.1717-9268del	NP_001303619.1:n.1717-9268del
NM_017780.3:c.6236del	NP_060250.2:p.Lys2079SerfsTer?
XM_011517553.1:c.6326del	XP_011515855.1:p.Lys2109SerfsTer?
XM_011517554.1:c.6326del	XP_011515856.1:p.Lys2109SerfsTer?
XM_011517555.1:c.6326del	XP_011515857.1:p.Lys2109SerfsTer?
XM_011517556.1:c.6326del	XP_011515858.1:p.Lys2109SerfsTer?
XM_011517557.1:c.4313del	XP_011515859.1:p.Lys1438SerfsTer?
XM_011517558.1:c.3863del	XP_011515860.1:p.Lys1288SerfsTer?
XM_011517559.1:c.3071del	XP_011515861.1:p.Lys1024SerfsTer?
XM_011517553.2:c.6326del	XP_011515855.1:p.Lys2109SerfsTer?
XM_011517554.3:c.6326del	XP_011515856.1:p.Lys2109SerfsTer?
XM_011517555.2:c.6326del	XP_011515857.1:p.Lys2109SerfsTer?
XM_017013612.1:c.6326del	XP_016869101.1:p.Lys2109SerfsTer?
XM_017013613.1:c.6236del	XP_016869102.1:p.Lys2079SerfsTer?
NM_017780.4:c.6236del MANE Select	NP_060250.2:p.Lys2079SerfsTer?