Canonical Allele Identifier: CA2580078848

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1806769
• ClinVar RCV Id: RCV002474198

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852621del , CM000670.2:g.60852621del	GRCh38
NC_000008.10:g.61765180del , CM000670.1:g.61765180del	GRCh37
NC_000008.9:g.61927734del	NCBI36
NG_007009.1:g.178842del , LRG_176:g.178842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6018del	ENSP00000512218.1:p.Lys2006AsnfsTer?
ENST00000423902.7:c.6018del MANE Select	ENSP00000392028.1:p.Lys2006AsnfsTer?
ENST00000423902.6:c.6018del	ENSP00000392028.1:p.Lys2006AsnfsTer?
ENST00000524602.5:c.1717-9608del	ENSP00000437061.1:n.1717-9608del
ENST00000527921.1:n.509del
NM_001316690.1:c.1717-9608del	NP_001303619.1:n.1717-9608del
NM_017780.3:c.6018del	NP_060250.2:p.Lys2006AsnfsTer?
XM_011517553.1:c.6108del	XP_011515855.1:p.Lys2036AsnfsTer?
XM_011517554.1:c.6108del	XP_011515856.1:p.Lys2036AsnfsTer?
XM_011517555.1:c.6108del	XP_011515857.1:p.Lys2036AsnfsTer?
XM_011517556.1:c.6108del	XP_011515858.1:p.Lys2036AsnfsTer?
XM_011517557.1:c.4095del	XP_011515859.1:p.Lys1365AsnfsTer?
XM_011517558.1:c.3645del	XP_011515860.1:p.Lys1215AsnfsTer?
XM_011517559.1:c.2853del	XP_011515861.1:p.Lys951AsnfsTer?
XM_011517553.2:c.6108del	XP_011515855.1:p.Lys2036AsnfsTer?
XM_011517554.3:c.6108del	XP_011515856.1:p.Lys2036AsnfsTer?
XM_011517555.2:c.6108del	XP_011515857.1:p.Lys2036AsnfsTer?
XM_017013612.1:c.6108del	XP_016869101.1:p.Lys2036AsnfsTer?
XM_017013613.1:c.6018del	XP_016869102.1:p.Lys2006AsnfsTer?
NM_017780.4:c.6018del MANE Select	NP_060250.2:p.Lys2006AsnfsTer?