Canonical Allele Identifier: CA1788086456

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60743429_60743433delinsCTCTT , CM000670.2:g.60743429_60743433delinsCTCTT	GRCh38
NC_000008.10:g.61655988_61655992delinsCTCTT , CM000670.1:g.61655988_61655992delinsCTCTT	GRCh37
NC_000008.9:g.61818542_61818546delinsCTCTT	NCBI36
NG_007009.1:g.69650_69654delinsCTCTT , LRG_176:g.69650_69654delinsCTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2178+332_2178+336delinsCTCTT
ENST00000695849.1:n.2178+332_2178+336delinsCTCTT
ENST00000695853.1:c.1665+332_1665+336delinsCTCTT	ENSP00000512218.1:n.1665+332_1665+336delinsCTCTT
ENST00000700671.1:c.1665+332_1665+336delinsCTCTT	ENSP00000515139.1:n.1665+332_1665+336delinsCTCTT
ENST00000423902.7:c.1665+332_1665+336delinsCTCTT MANE Select	ENSP00000392028.1:n.1665+332_1665+336delinsCTCTT
ENST00000423902.6:c.1665+332_1665+336delinsCTCTT	ENSP00000392028.1:n.1665+332_1665+336delinsCTCTT
ENST00000524602.5:c.1665+332_1665+336delinsCTCTT	ENSP00000437061.1:n.1665+332_1665+336delinsCTCTT
ENST00000525508.1:c.1665+332_1665+336delinsCTCTT	ENSP00000436027.1:n.1665+332_1665+336delinsCTCTT
ENST00000527825.1:c.309+332_309+336delinsCTCTT
ENST00000527900.1:c.66+332_66+336delinsCTCTT	ENSP00000433336.1:n.66+332_66+336delinsCTCTT
NM_001316690.1:c.1665+332_1665+336delinsCTCTT	NP_001303619.1:n.1665+332_1665+336delinsCTCTT
NM_017780.3:c.1665+332_1665+336delinsCTCTT	NP_060250.2:n.1665+332_1665+336delinsCTCTT
XM_011517553.1:c.1665+332_1665+336delinsCTCTT	XP_011515855.1:n.1665+332_1665+336delinsCTCTT
XM_011517554.1:c.1665+332_1665+336delinsCTCTT	XP_011515856.1:n.1665+332_1665+336delinsCTCTT
XM_011517555.1:c.1665+332_1665+336delinsCTCTT	XP_011515857.1:n.1665+332_1665+336delinsCTCTT
XM_011517556.1:c.1665+332_1665+336delinsCTCTT	XP_011515858.1:n.1665+332_1665+336delinsCTCTT
XM_011517560.1:c.1665+332_1665+336delinsCTCTT	XP_011515862.1:n.1665+332_1665+336delinsCTCTT
XM_011517553.2:c.1665+332_1665+336delinsCTCTT	XP_011515855.1:n.1665+332_1665+336delinsCTCTT
XM_011517554.3:c.1665+332_1665+336delinsCTCTT	XP_011515856.1:n.1665+332_1665+336delinsCTCTT
XM_011517555.2:c.1665+332_1665+336delinsCTCTT	XP_011515857.1:n.1665+332_1665+336delinsCTCTT
XM_011517560.2:c.1665+332_1665+336delinsCTCTT	XP_011515862.1:n.1665+332_1665+336delinsCTCTT
XM_017013612.1:c.1665+332_1665+336delinsCTCTT	XP_016869101.1:n.1665+332_1665+336delinsCTCTT
XM_017013613.1:c.1665+332_1665+336delinsCTCTT	XP_016869102.1:n.1665+332_1665+336delinsCTCTT
NM_017780.4:c.1665+332_1665+336delinsCTCTT MANE Select	NP_060250.2:n.1665+332_1665+336delinsCTCTT