Canonical Allele Identifier: CA2695209417

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853045_60853046del , CM000670.2:g.60853045_60853046del	GRCh38
NC_000008.10:g.61765604_61765605del , CM000670.1:g.61765604_61765605del	GRCh37
NC_000008.9:g.61928158_61928159del	NCBI36
NG_007009.1:g.179266_179267del , LRG_176:g.179266_179267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6320_6321del	ENSP00000512218.1:p.His2107ArgfsTer12
ENST00000423902.7:c.6320_6321del MANE Select	ENSP00000392028.1:p.His2107ArgfsTer12
ENST00000423902.6:c.6320_6321del	ENSP00000392028.1:p.His2107ArgfsTer12
ENST00000524602.5:c.1717-9184_1717-9183del	ENSP00000437061.1:n.1717-9184_1717-9183del
NM_001316690.1:c.1717-9184_1717-9183del	NP_001303619.1:n.1717-9184_1717-9183del
NM_017780.3:c.6320_6321del	NP_060250.2:p.His2107ArgfsTer12
XM_011517553.1:c.6410_6411del	XP_011515855.1:p.His2137ArgfsTer12
XM_011517554.1:c.6410_6411del	XP_011515856.1:p.His2137ArgfsTer12
XM_011517555.1:c.6410_6411del	XP_011515857.1:p.His2137ArgfsTer12
XM_011517556.1:c.6410_6411del	XP_011515858.1:p.His2137ArgfsTer12
XM_011517557.1:c.4397_4398del	XP_011515859.1:p.His1466ArgfsTer12
XM_011517558.1:c.3947_3948del	XP_011515860.1:p.His1316ArgfsTer12
XM_011517559.1:c.3155_3156del	XP_011515861.1:p.His1052ArgfsTer12
XM_011517553.2:c.6410_6411del	XP_011515855.1:p.His2137ArgfsTer12
XM_011517554.3:c.6410_6411del	XP_011515856.1:p.His2137ArgfsTer12
XM_011517555.2:c.6410_6411del	XP_011515857.1:p.His2137ArgfsTer12
XM_017013612.1:c.6410_6411del	XP_016869101.1:p.His2137ArgfsTer12
XM_017013613.1:c.6320_6321del	XP_016869102.1:p.His2107ArgfsTer12
NM_017780.4:c.6320_6321del MANE Select	NP_060250.2:p.His2107ArgfsTer12