Canonical Allele Identifier: CA2780534900

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860930del , CM000670.2:g.60860930del	GRCh38
NC_000008.10:g.61773489del , CM000670.1:g.61773489del	GRCh37
NC_000008.9:g.61936043del	NCBI36
NG_007009.1:g.187151del , LRG_176:g.187151del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.811del
ENST00000695851.1:n.15del
ENST00000695853.1:c.*694del	ENSP00000512218.1:n.*694del
ENST00000423902.7:c.7635del MANE Select	ENSP00000392028.1:p.Phe2545LeufsTer5
ENST00000423902.6:c.7635del	ENSP00000392028.1:p.Phe2545LeufsTer5
ENST00000524602.5:c.1717-1299del	ENSP00000437061.1:n.1717-1299del
ENST00000531695.1:n.59del
ENST00000618450.1:n.27del
NM_001316690.1:c.1717-1299del	NP_001303619.1:n.1717-1299del
NM_017780.3:c.7635del	NP_060250.2:p.Phe2545LeufsTer5
XM_011517553.1:c.7725del	XP_011515855.1:p.Phe2575LeufsTer5
XM_011517554.1:c.7725del	XP_011515856.1:p.Phe2575LeufsTer5
XM_011517555.1:c.7722del	XP_011515857.1:p.Phe2574LeufsTer5
XM_011517556.1:c.7699-1266del	XP_011515858.1:n.7699-1266del
XM_011517557.1:c.5712del	XP_011515859.1:p.Phe1904LeufsTer5
XM_011517558.1:c.5262del	XP_011515860.1:p.Phe1754LeufsTer5
XM_011517559.1:c.4470del	XP_011515861.1:p.Phe1490LeufsTer5
XM_011517553.2:c.7725del	XP_011515855.1:p.Phe2575LeufsTer5
XM_011517554.3:c.7725del	XP_011515856.1:p.Phe2575LeufsTer5
XM_011517555.2:c.7722del	XP_011515857.1:p.Phe2574LeufsTer5
XM_017013612.1:c.7725del	XP_016869101.1:p.Phe2575LeufsTer5
XM_017013613.1:c.7632del	XP_016869102.1:p.Phe2544LeufsTer5
NM_017780.4:c.7635del MANE Select	NP_060250.2:p.Phe2545LeufsTer5