Canonical Allele Identifier: CA1788130417

Gene: CHD7

Linked Data

• dbSNP Id: rs1806200432

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865440_60865442del , CM000670.2:g.60865440_60865442del	GRCh38
NC_000008.10:g.61777999_61778001del , CM000670.1:g.61777999_61778001del	GRCh37
NC_000008.9:g.61940553_61940555del	NCBI36
NG_007009.1:g.191661_191663del , LRG_176:g.191661_191663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1677_1679del
ENST00000695852.1:n.608_610del
ENST00000695853.1:c.*1560_*1562del	ENSP00000512218.1:n.*1560_*1562del
ENST00000423902.7:c.8501_8503del MANE Select	ENSP00000392028.1:p.Gly2834del
ENST00000423902.6:c.8501_8503del	ENSP00000392028.1:p.Gly2834del
ENST00000524602.5:c.2354_2356del	ENSP00000437061.1:p.Gly785del
ENST00000528280.1:n.547_549del
NM_001316690.1:c.2354_2356del	NP_001303619.1:p.Gly785del
NM_017780.3:c.8501_8503del	NP_060250.2:p.Gly2834del
XM_011517553.1:c.8591_8593del	XP_011515855.1:p.Gly2864del
XM_011517554.1:c.8591_8593del	XP_011515856.1:p.Gly2864del
XM_011517555.1:c.8588_8590del	XP_011515857.1:p.Gly2863del
XM_011517556.1:c.8369_8371del	XP_011515858.1:p.Gly2790del
XM_011517557.1:c.6578_6580del	XP_011515859.1:p.Gly2193del
XM_011517558.1:c.6128_6130del	XP_011515860.1:p.Gly2043del
XM_011517559.1:c.5336_5338del	XP_011515861.1:p.Gly1779del
XM_011517553.2:c.8591_8593del	XP_011515855.1:p.Gly2864del
XM_011517554.3:c.8591_8593del	XP_011515856.1:p.Gly2864del
XM_011517555.2:c.8588_8590del	XP_011515857.1:p.Gly2863del
XM_017013612.1:c.8591_8593del	XP_016869101.1:p.Gly2864del
XM_017013613.1:c.8498_8500del	XP_016869102.1:p.Gly2833del
NM_017780.4:c.8501_8503del MANE Select	NP_060250.2:p.Gly2834del