Canonical Allele Identifier: CA2573332550

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852598del , CM000670.2:g.60852598del	GRCh38
NC_000008.10:g.61765157del , CM000670.1:g.61765157del	GRCh37
NC_000008.9:g.61927711del	NCBI36
NG_007009.1:g.178819del , LRG_176:g.178819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5995del	ENSP00000512218.1:p.Ala1999ProfsTer?
ENST00000423902.7:c.5995del MANE Select	ENSP00000392028.1:p.Ala1999ProfsTer?
ENST00000423902.6:c.5995del	ENSP00000392028.1:p.Ala1999ProfsTer?
ENST00000524602.5:c.1717-9631del	ENSP00000437061.1:n.1717-9631del
ENST00000527921.1:n.486del
NM_001316690.1:c.1717-9631del	NP_001303619.1:n.1717-9631del
NM_017780.3:c.5995del	NP_060250.2:p.Ala1999ProfsTer?
XM_011517553.1:c.6085del	XP_011515855.1:p.Ala2029ProfsTer?
XM_011517554.1:c.6085del	XP_011515856.1:p.Ala2029ProfsTer?
XM_011517555.1:c.6085del	XP_011515857.1:p.Ala2029ProfsTer?
XM_011517556.1:c.6085del	XP_011515858.1:p.Ala2029ProfsTer?
XM_011517557.1:c.4072del	XP_011515859.1:p.Ala1358ProfsTer?
XM_011517558.1:c.3622del	XP_011515860.1:p.Ala1208ProfsTer?
XM_011517559.1:c.2830del	XP_011515861.1:p.Ala944ProfsTer?
XM_011517553.2:c.6085del	XP_011515855.1:p.Ala2029ProfsTer?
XM_011517554.3:c.6085del	XP_011515856.1:p.Ala2029ProfsTer?
XM_011517555.2:c.6085del	XP_011515857.1:p.Ala2029ProfsTer?
XM_017013612.1:c.6085del	XP_016869101.1:p.Ala2029ProfsTer?
XM_017013613.1:c.5995del	XP_016869102.1:p.Ala1999ProfsTer?
NM_017780.4:c.5995del MANE Select	NP_060250.2:p.Ala1999ProfsTer?