Canonical Allele Identifier: CA2695203156

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860945_60860946del , CM000670.2:g.60860945_60860946del	GRCh38
NC_000008.10:g.61773504_61773505del , CM000670.1:g.61773504_61773505del	GRCh37
NC_000008.9:g.61936058_61936059del	NCBI36
NG_007009.1:g.187166_187167del , LRG_176:g.187166_187167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.826_827del
ENST00000695851.1:n.30_31del
ENST00000695853.1:c.*709_*710del	ENSP00000512218.1:n.*709_*710del
ENST00000423902.7:c.7650_7651del MANE Select	ENSP00000392028.1:p.Glu2550AspfsTer25
ENST00000423902.6:c.7650_7651del	ENSP00000392028.1:p.Glu2550AspfsTer25
ENST00000524602.5:c.1717-1284_1717-1283del	ENSP00000437061.1:n.1717-1284_1717-1283del
ENST00000531695.1:n.74_75del
ENST00000618450.1:n.42_43del
NM_001316690.1:c.1717-1284_1717-1283del	NP_001303619.1:n.1717-1284_1717-1283del
NM_017780.3:c.7650_7651del	NP_060250.2:p.Glu2550AspfsTer25
XM_011517553.1:c.7740_7741del	XP_011515855.1:p.Glu2580AspfsTer25
XM_011517554.1:c.7740_7741del	XP_011515856.1:p.Glu2580AspfsTer25
XM_011517555.1:c.7737_7738del	XP_011515857.1:p.Glu2579AspfsTer25
XM_011517556.1:c.7699-1251_7699-1250del	XP_011515858.1:n.7699-1251_7699-1250del
XM_011517557.1:c.5727_5728del	XP_011515859.1:p.Glu1909AspfsTer25
XM_011517558.1:c.5277_5278del	XP_011515860.1:p.Glu1759AspfsTer25
XM_011517559.1:c.4485_4486del	XP_011515861.1:p.Glu1495AspfsTer25
XM_011517553.2:c.7740_7741del	XP_011515855.1:p.Glu2580AspfsTer25
XM_011517554.3:c.7740_7741del	XP_011515856.1:p.Glu2580AspfsTer25
XM_011517555.2:c.7737_7738del	XP_011515857.1:p.Glu2579AspfsTer25
XM_017013612.1:c.7740_7741del	XP_016869101.1:p.Glu2580AspfsTer25
XM_017013613.1:c.7647_7648del	XP_016869102.1:p.Glu2549AspfsTer25
NM_017780.4:c.7650_7651del MANE Select	NP_060250.2:p.Glu2550AspfsTer25