Canonical Allele Identifier: CA1788120465

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860921_60860922delinsCA , CM000670.2:g.60860921_60860922delinsCA	GRCh38
NC_000008.10:g.61773480_61773481delinsCA , CM000670.1:g.61773480_61773481delinsCA	GRCh37
NC_000008.9:g.61936034_61936035delinsCA	NCBI36
NG_007009.1:g.187142_187143delinsCA , LRG_176:g.187142_187143delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.802_803delinsCA
ENST00000695851.1:n.6_7delinsCA
ENST00000695853.1:c.*685_*686delinsCA	ENSP00000512218.1:n.*685_*686delinsCA
ENST00000423902.7:c.7626_7627delinsCA MANE Select	ENSP00000392028.1:p.Thr2542=
ENST00000423902.6:c.7626_7627delinsCA	ENSP00000392028.1:p.Thr2542=
ENST00000524602.5:c.1717-1308_1717-1307delinsCA	ENSP00000437061.1:n.1717-1308_1717-1307delinsCA
ENST00000531695.1:n.50_51delinsCA
ENST00000618450.1:n.18_19delinsCA
NM_001316690.1:c.1717-1308_1717-1307delinsCA	NP_001303619.1:n.1717-1308_1717-1307delinsCA
NM_017780.3:c.7626_7627delinsCA	NP_060250.2:p.Thr2542=
XM_011517553.1:c.7716_7717delinsCA	XP_011515855.1:p.Thr2572=
XM_011517554.1:c.7716_7717delinsCA	XP_011515856.1:p.Thr2572=
XM_011517555.1:c.7713_7714delinsCA	XP_011515857.1:p.Thr2571=
XM_011517556.1:c.7699-1275_7699-1274delinsCA	XP_011515858.1:n.7699-1275_7699-1274delinsCA
XM_011517557.1:c.5703_5704delinsCA	XP_011515859.1:p.Thr1901=
XM_011517558.1:c.5253_5254delinsCA	XP_011515860.1:p.Thr1751=
XM_011517559.1:c.4461_4462delinsCA	XP_011515861.1:p.Thr1487=
XM_011517553.2:c.7716_7717delinsCA	XP_011515855.1:p.Thr2572=
XM_011517554.3:c.7716_7717delinsCA	XP_011515856.1:p.Thr2572=
XM_011517555.2:c.7713_7714delinsCA	XP_011515857.1:p.Thr2571=
XM_017013612.1:c.7716_7717delinsCA	XP_016869101.1:p.Thr2572=
XM_017013613.1:c.7623_7624delinsCA	XP_016869102.1:p.Thr2541=
NM_017780.4:c.7626_7627delinsCA MANE Select	NP_060250.2:p.Thr2542=