Canonical Allele Identifier: CA1788120310

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860864_60860865delinsTC , CM000670.2:g.60860864_60860865delinsTC	GRCh38
NC_000008.10:g.61773423_61773424delinsTC , CM000670.1:g.61773423_61773424delinsTC	GRCh37
NC_000008.9:g.61935977_61935978delinsTC	NCBI36
NG_007009.1:g.187085_187086delinsTC , LRG_176:g.187085_187086delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.785-40_785-39delinsTC
ENST00000695853.1:c.*668-40_*668-39delinsTC	ENSP00000512218.1:n.*668-40_*668-39delinsTC
ENST00000423902.7:c.7609-40_7609-39delinsTC MANE Select	ENSP00000392028.1:n.7609-40_7609-39delinsTC
ENST00000423902.6:c.7609-40_7609-39delinsTC	ENSP00000392028.1:n.7609-40_7609-39delinsTC
ENST00000524602.5:c.1717-1365_1717-1364delinsTC	ENSP00000437061.1:n.1717-1365_1717-1364delinsTC
ENST00000531695.1:n.33-40_33-39delinsTC
NM_001316690.1:c.1717-1365_1717-1364delinsTC	NP_001303619.1:n.1717-1365_1717-1364delinsTC
NM_017780.3:c.7609-40_7609-39delinsTC	NP_060250.2:n.7609-40_7609-39delinsTC
XM_011517553.1:c.7699-40_7699-39delinsTC	XP_011515855.1:n.7699-40_7699-39delinsTC
XM_011517554.1:c.7699-40_7699-39delinsTC	XP_011515856.1:n.7699-40_7699-39delinsTC
XM_011517555.1:c.7696-40_7696-39delinsTC	XP_011515857.1:n.7696-40_7696-39delinsTC
XM_011517556.1:c.7699-1332_7699-1331delinsTC	XP_011515858.1:n.7699-1332_7699-1331delinsTC
XM_011517557.1:c.5686-40_5686-39delinsTC	XP_011515859.1:n.5686-40_5686-39delinsTC
XM_011517558.1:c.5236-40_5236-39delinsTC	XP_011515860.1:n.5236-40_5236-39delinsTC
XM_011517559.1:c.4444-40_4444-39delinsTC	XP_011515861.1:n.4444-40_4444-39delinsTC
XM_011517553.2:c.7699-40_7699-39delinsTC	XP_011515855.1:n.7699-40_7699-39delinsTC
XM_011517554.3:c.7699-40_7699-39delinsTC	XP_011515856.1:n.7699-40_7699-39delinsTC
XM_011517555.2:c.7696-40_7696-39delinsTC	XP_011515857.1:n.7696-40_7696-39delinsTC
XM_017013612.1:c.7699-40_7699-39delinsTC	XP_016869101.1:n.7699-40_7699-39delinsTC
XM_017013613.1:c.7606-40_7606-39delinsTC	XP_016869102.1:n.7606-40_7606-39delinsTC
NM_017780.4:c.7609-40_7609-39delinsTC MANE Select	NP_060250.2:n.7609-40_7609-39delinsTC