Canonical Allele Identifier: CA1788120166

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860799_60860800delinsCT , CM000670.2:g.60860799_60860800delinsCT	GRCh38
NC_000008.10:g.61773358_61773359delinsCT , CM000670.1:g.61773358_61773359delinsCT	GRCh37
NC_000008.9:g.61935912_61935913delinsCT	NCBI36
NG_007009.1:g.187020_187021delinsCT , LRG_176:g.187020_187021delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.785-105_785-104delinsCT
ENST00000695853.1:c.*668-105_*668-104delinsCT	ENSP00000512218.1:n.*668-105_*668-104delinsCT
ENST00000423902.7:c.7609-105_7609-104delinsCT MANE Select	ENSP00000392028.1:n.7609-105_7609-104delinsCT
ENST00000423902.6:c.7609-105_7609-104delinsCT	ENSP00000392028.1:n.7609-105_7609-104delinsCT
ENST00000524602.5:c.1717-1430_1717-1429delinsCT	ENSP00000437061.1:n.1717-1430_1717-1429delinsCT
ENST00000531695.1:n.33-105_33-104delinsCT
NM_001316690.1:c.1717-1430_1717-1429delinsCT	NP_001303619.1:n.1717-1430_1717-1429delinsCT
NM_017780.3:c.7609-105_7609-104delinsCT	NP_060250.2:n.7609-105_7609-104delinsCT
XM_011517553.1:c.7699-105_7699-104delinsCT	XP_011515855.1:n.7699-105_7699-104delinsCT
XM_011517554.1:c.7699-105_7699-104delinsCT	XP_011515856.1:n.7699-105_7699-104delinsCT
XM_011517555.1:c.7696-105_7696-104delinsCT	XP_011515857.1:n.7696-105_7696-104delinsCT
XM_011517556.1:c.7699-1397_7699-1396delinsCT	XP_011515858.1:n.7699-1397_7699-1396delinsCT
XM_011517557.1:c.5686-105_5686-104delinsCT	XP_011515859.1:n.5686-105_5686-104delinsCT
XM_011517558.1:c.5236-105_5236-104delinsCT	XP_011515860.1:n.5236-105_5236-104delinsCT
XM_011517559.1:c.4444-105_4444-104delinsCT	XP_011515861.1:n.4444-105_4444-104delinsCT
XM_011517553.2:c.7699-105_7699-104delinsCT	XP_011515855.1:n.7699-105_7699-104delinsCT
XM_011517554.3:c.7699-105_7699-104delinsCT	XP_011515856.1:n.7699-105_7699-104delinsCT
XM_011517555.2:c.7696-105_7696-104delinsCT	XP_011515857.1:n.7696-105_7696-104delinsCT
XM_017013612.1:c.7699-105_7699-104delinsCT	XP_016869101.1:n.7699-105_7699-104delinsCT
XM_017013613.1:c.7606-105_7606-104delinsCT	XP_016869102.1:n.7606-105_7606-104delinsCT
NM_017780.4:c.7609-105_7609-104delinsCT MANE Select	NP_060250.2:n.7609-105_7609-104delinsCT