Canonical Allele Identifier: CA645546297

Gene: CHD7

Linked Data

• COSMIC: COSM4747354

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852600_60852617del , CM000670.2:g.60852600_60852617del	GRCh38
NC_000008.10:g.61765159_61765176del , CM000670.1:g.61765159_61765176del	GRCh37
NC_000008.9:g.61927713_61927730del	NCBI36
NG_007009.1:g.178821_178838del , LRG_176:g.178821_178838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5997_6014del	ENSP00000512218.1:p.Phe2000_Lys2005del
ENST00000423902.7:c.5997_6014del MANE Select	ENSP00000392028.1:p.Phe2000_Lys2005del
ENST00000423902.6:c.5997_6014del	ENSP00000392028.1:p.Phe2000_Lys2005del
ENST00000524602.5:c.1717-9629_1717-9612del	ENSP00000437061.1:n.1717-9629_1717-9612del
ENST00000527921.1:n.488_505del
NM_001316690.1:c.1717-9629_1717-9612del	NP_001303619.1:n.1717-9629_1717-9612del
NM_017780.3:c.5997_6014del	NP_060250.2:p.Phe2000_Lys2005del
XM_011517553.1:c.6087_6104del	XP_011515855.1:p.Phe2030_Lys2035del
XM_011517554.1:c.6087_6104del	XP_011515856.1:p.Phe2030_Lys2035del
XM_011517555.1:c.6087_6104del	XP_011515857.1:p.Phe2030_Lys2035del
XM_011517556.1:c.6087_6104del	XP_011515858.1:p.Phe2030_Lys2035del
XM_011517557.1:c.4074_4091del	XP_011515859.1:p.Phe1359_Lys1364del
XM_011517558.1:c.3624_3641del	XP_011515860.1:p.Phe1209_Lys1214del
XM_011517559.1:c.2832_2849del	XP_011515861.1:p.Phe945_Lys950del
XM_011517553.2:c.6087_6104del	XP_011515855.1:p.Phe2030_Lys2035del
XM_011517554.3:c.6087_6104del	XP_011515856.1:p.Phe2030_Lys2035del
XM_011517555.2:c.6087_6104del	XP_011515857.1:p.Phe2030_Lys2035del
XM_017013612.1:c.6087_6104del	XP_016869101.1:p.Phe2030_Lys2035del
XM_017013613.1:c.5997_6014del	XP_016869102.1:p.Phe2000_Lys2005del
NM_017780.4:c.5997_6014del MANE Select	NP_060250.2:p.Phe2000_Lys2005del