Canonical Allele Identifier: CA2687399301

Gene: CHD7

Linked Data

• gnomAD v4: 8-60838162-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60838165del , CM000670.2:g.60838165del	GRCh38
NC_000008.10:g.61750724del , CM000670.1:g.61750724del	GRCh37
NC_000008.9:g.61913278del	NCBI36
NG_007009.1:g.164386del , LRG_176:g.164386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.4443del	ENSP00000512218.1:p.Lys1481AsnfsTer?
ENST00000423902.7:c.4443del MANE Select	ENSP00000392028.1:p.Lys1481AsnfsTer?
ENST00000423902.6:c.4443del	ENSP00000392028.1:p.Lys1481AsnfsTer?
ENST00000524602.5:c.1717-24064del	ENSP00000437061.1:n.1717-24064del
NM_001316690.1:c.1717-24064del	NP_001303619.1:n.1717-24064del
NM_017780.3:c.4443del	NP_060250.2:p.Lys1481AsnfsTer?
XM_011517553.1:c.4443del	XP_011515855.1:p.Lys1481AsnfsTer?
XM_011517554.1:c.4443del	XP_011515856.1:p.Lys1481AsnfsTer?
XM_011517555.1:c.4443del	XP_011515857.1:p.Lys1481AsnfsTer?
XM_011517556.1:c.4443del	XP_011515858.1:p.Lys1481AsnfsTer?
XM_011517557.1:c.2430del	XP_011515859.1:p.Lys810AsnfsTer?
XM_011517558.1:c.1980del	XP_011515860.1:p.Lys660AsnfsTer?
XM_011517559.1:c.1188del	XP_011515861.1:p.Lys396AsnfsTer?
XM_011517560.1:c.4443del	XP_011515862.1:p.Lys1481AsnfsTer?
XM_011517553.2:c.4443del	XP_011515855.1:p.Lys1481AsnfsTer?
XM_011517554.3:c.4443del	XP_011515856.1:p.Lys1481AsnfsTer?
XM_011517555.2:c.4443del	XP_011515857.1:p.Lys1481AsnfsTer?
XM_011517560.2:c.4443del	XP_011515862.1:p.Lys1481AsnfsTer?
XM_017013612.1:c.4443del	XP_016869101.1:p.Lys1481AsnfsTer?
XM_017013613.1:c.4443del	XP_016869102.1:p.Lys1481AsnfsTer?
NM_017780.4:c.4443del MANE Select	NP_060250.2:p.Lys1481AsnfsTer?