Canonical Allele Identifier: CA2695209461

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856489del , CM000670.2:g.60856489del	GRCh38
NC_000008.10:g.61769048del , CM000670.1:g.61769048del	GRCh37
NC_000008.9:g.61931602del	NCBI36
NG_007009.1:g.182710del , LRG_176:g.182710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.385del
ENST00000695853.1:c.*268del	ENSP00000512218.1:n.*268del
ENST00000423902.7:c.7209del MANE Select	ENSP00000392028.1:p.Arg2404GlyfsTer?
ENST00000423902.6:c.7209del	ENSP00000392028.1:p.Arg2404GlyfsTer?
ENST00000524602.5:c.1717-5740del	ENSP00000437061.1:n.1717-5740del
ENST00000529472.1:n.390del
NM_001316690.1:c.1717-5740del	NP_001303619.1:n.1717-5740del
NM_017780.3:c.7209del	NP_060250.2:p.Arg2404GlyfsTer?
XM_011517553.1:c.7299del	XP_011515855.1:p.Arg2434GlyfsTer?
XM_011517554.1:c.7299del	XP_011515856.1:p.Arg2434GlyfsTer?
XM_011517555.1:c.7296del	XP_011515857.1:p.Arg2433GlyfsTer?
XM_011517556.1:c.7299del	XP_011515858.1:p.Arg2434GlyfsTer?
XM_011517557.1:c.5286del	XP_011515859.1:p.Arg1763GlyfsTer?
XM_011517558.1:c.4836del	XP_011515860.1:p.Arg1613GlyfsTer?
XM_011517559.1:c.4044del	XP_011515861.1:p.Arg1349GlyfsTer?
XM_011517553.2:c.7299del	XP_011515855.1:p.Arg2434GlyfsTer?
XM_011517554.3:c.7299del	XP_011515856.1:p.Arg2434GlyfsTer?
XM_011517555.2:c.7296del	XP_011515857.1:p.Arg2433GlyfsTer?
XM_017013612.1:c.7299del	XP_016869101.1:p.Arg2434GlyfsTer?
XM_017013613.1:c.7206del	XP_016869102.1:p.Arg2403GlyfsTer?
NM_017780.4:c.7209del MANE Select	NP_060250.2:p.Arg2404GlyfsTer?