Canonical Allele Identifier: CA1788120932

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861058_60861059delinsAT , CM000670.2:g.60861058_60861059delinsAT	GRCh38
NC_000008.10:g.61773617_61773618delinsAT , CM000670.1:g.61773617_61773618delinsAT	GRCh37
NC_000008.9:g.61936171_61936172delinsAT	NCBI36
NG_007009.1:g.187279_187280delinsAT , LRG_176:g.187279_187280delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.939_940delinsAT
ENST00000695851.1:n.143_144delinsAT
ENST00000695853.1:c.*822_*823delinsAT	ENSP00000512218.1:n.*822_*823delinsAT
ENST00000423902.7:c.7763_7764delinsAT MANE Select	ENSP00000392028.1:p.Asn2588=
ENST00000423902.6:c.7763_7764delinsAT	ENSP00000392028.1:p.Asn2588=
ENST00000524602.5:c.1717-1171_1717-1170delinsAT	ENSP00000437061.1:n.1717-1171_1717-1170delinsAT
ENST00000531695.1:n.187_188delinsAT
ENST00000618450.1:n.155_156delinsAT
NM_001316690.1:c.1717-1171_1717-1170delinsAT	NP_001303619.1:n.1717-1171_1717-1170delinsAT
NM_017780.3:c.7763_7764delinsAT	NP_060250.2:p.Asn2588=
XM_011517553.1:c.7853_7854delinsAT	XP_011515855.1:p.Asn2618=
XM_011517554.1:c.7853_7854delinsAT	XP_011515856.1:p.Asn2618=
XM_011517555.1:c.7850_7851delinsAT	XP_011515857.1:p.Asn2617=
XM_011517556.1:c.7699-1138_7699-1137delinsAT	XP_011515858.1:n.7699-1138_7699-1137delinsAT
XM_011517557.1:c.5840_5841delinsAT	XP_011515859.1:p.Asn1947=
XM_011517558.1:c.5390_5391delinsAT	XP_011515860.1:p.Asn1797=
XM_011517559.1:c.4598_4599delinsAT	XP_011515861.1:p.Asn1533=
XM_011517553.2:c.7853_7854delinsAT	XP_011515855.1:p.Asn2618=
XM_011517554.3:c.7853_7854delinsAT	XP_011515856.1:p.Asn2618=
XM_011517555.2:c.7850_7851delinsAT	XP_011515857.1:p.Asn2617=
XM_017013612.1:c.7853_7854delinsAT	XP_016869101.1:p.Asn2618=
XM_017013613.1:c.7760_7761delinsAT	XP_016869102.1:p.Asn2587=
NM_017780.4:c.7763_7764delinsAT MANE Select	NP_060250.2:p.Asn2588=