Canonical Allele Identifier: CA1788086467

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60743437_60743441delinsTTGTG , CM000670.2:g.60743437_60743441delinsTTGTG	GRCh38
NC_000008.10:g.61655996_61656000delinsTTGTG , CM000670.1:g.61655996_61656000delinsTTGTG	GRCh37
NC_000008.9:g.61818550_61818554delinsTTGTG	NCBI36
NG_007009.1:g.69658_69662delinsTTGTG , LRG_176:g.69658_69662delinsTTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2178+340_2178+344delinsTTGTG
ENST00000695849.1:n.2178+340_2178+344delinsTTGTG
ENST00000695853.1:c.1665+340_1665+344delinsTTGTG	ENSP00000512218.1:n.1665+340_1665+344delinsTTGTG
ENST00000700671.1:c.1665+340_1665+344delinsTTGTG	ENSP00000515139.1:n.1665+340_1665+344delinsTTGTG
ENST00000423902.7:c.1665+340_1665+344delinsTTGTG MANE Select	ENSP00000392028.1:n.1665+340_1665+344delinsTTGTG
ENST00000423902.6:c.1665+340_1665+344delinsTTGTG	ENSP00000392028.1:n.1665+340_1665+344delinsTTGTG
ENST00000524602.5:c.1665+340_1665+344delinsTTGTG	ENSP00000437061.1:n.1665+340_1665+344delinsTTGTG
ENST00000525508.1:c.1665+340_1665+344delinsTTGTG	ENSP00000436027.1:n.1665+340_1665+344delinsTTGTG
ENST00000527825.1:c.309+340_309+344delinsTTGTG
ENST00000527900.1:c.66+340_66+344delinsTTGTG	ENSP00000433336.1:n.66+340_66+344delinsTTGTG
NM_001316690.1:c.1665+340_1665+344delinsTTGTG	NP_001303619.1:n.1665+340_1665+344delinsTTGTG
NM_017780.3:c.1665+340_1665+344delinsTTGTG	NP_060250.2:n.1665+340_1665+344delinsTTGTG
XM_011517553.1:c.1665+340_1665+344delinsTTGTG	XP_011515855.1:n.1665+340_1665+344delinsTTGTG
XM_011517554.1:c.1665+340_1665+344delinsTTGTG	XP_011515856.1:n.1665+340_1665+344delinsTTGTG
XM_011517555.1:c.1665+340_1665+344delinsTTGTG	XP_011515857.1:n.1665+340_1665+344delinsTTGTG
XM_011517556.1:c.1665+340_1665+344delinsTTGTG	XP_011515858.1:n.1665+340_1665+344delinsTTGTG
XM_011517560.1:c.1665+340_1665+344delinsTTGTG	XP_011515862.1:n.1665+340_1665+344delinsTTGTG
XM_011517553.2:c.1665+340_1665+344delinsTTGTG	XP_011515855.1:n.1665+340_1665+344delinsTTGTG
XM_011517554.3:c.1665+340_1665+344delinsTTGTG	XP_011515856.1:n.1665+340_1665+344delinsTTGTG
XM_011517555.2:c.1665+340_1665+344delinsTTGTG	XP_011515857.1:n.1665+340_1665+344delinsTTGTG
XM_011517560.2:c.1665+340_1665+344delinsTTGTG	XP_011515862.1:n.1665+340_1665+344delinsTTGTG
XM_017013612.1:c.1665+340_1665+344delinsTTGTG	XP_016869101.1:n.1665+340_1665+344delinsTTGTG
XM_017013613.1:c.1665+340_1665+344delinsTTGTG	XP_016869102.1:n.1665+340_1665+344delinsTTGTG
NM_017780.4:c.1665+340_1665+344delinsTTGTG MANE Select	NP_060250.2:n.1665+340_1665+344delinsTTGTG