Canonical Allele Identifier: CA2573053042

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1326581
• ClinVar RCV Id: RCV001786761
• dbSNP Id: rs2150801705

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60849095del , CM000670.2:g.60849095del	GRCh38
NC_000008.10:g.61761654del , CM000670.1:g.61761654del	GRCh37
NC_000008.9:g.61924208del	NCBI36
NG_007009.1:g.175316del , LRG_176:g.175316del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5345del	ENSP00000512218.1:p.Pro1782LeufsTer14
ENST00000423902.7:c.5345del MANE Select	ENSP00000392028.1:p.Pro1782LeufsTer14
ENST00000423902.6:c.5345del	ENSP00000392028.1:p.Pro1782LeufsTer14
ENST00000524602.5:c.1717-13134del	ENSP00000437061.1:n.1717-13134del
NM_001316690.1:c.1717-13134del	NP_001303619.1:n.1717-13134del
NM_017780.3:c.5345del	NP_060250.2:p.Pro1782LeufsTer14
XM_011517553.1:c.5435del	XP_011515855.1:p.Pro1812LeufsTer14
XM_011517554.1:c.5435del	XP_011515856.1:p.Pro1812LeufsTer14
XM_011517555.1:c.5435del	XP_011515857.1:p.Pro1812LeufsTer14
XM_011517556.1:c.5435del	XP_011515858.1:p.Pro1812LeufsTer14
XM_011517557.1:c.3422del	XP_011515859.1:p.Pro1141LeufsTer14
XM_011517558.1:c.2972del	XP_011515860.1:p.Pro991LeufsTer14
XM_011517559.1:c.2180del	XP_011515861.1:p.Pro727LeufsTer14
XM_011517553.2:c.5435del	XP_011515855.1:p.Pro1812LeufsTer14
XM_011517554.3:c.5435del	XP_011515856.1:p.Pro1812LeufsTer14
XM_011517555.2:c.5435del	XP_011515857.1:p.Pro1812LeufsTer14
XM_017013612.1:c.5435del	XP_016869101.1:p.Pro1812LeufsTer14
XM_017013613.1:c.5345del	XP_016869102.1:p.Pro1782LeufsTer14
NM_017780.4:c.5345del MANE Select	NP_060250.2:p.Pro1782LeufsTer14