Canonical Allele Identifier: CA1788120763

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860991_60860993delinsGAC , CM000670.2:g.60860991_60860993delinsGAC	GRCh38
NC_000008.10:g.61773550_61773552delinsGAC , CM000670.1:g.61773550_61773552delinsGAC	GRCh37
NC_000008.9:g.61936104_61936106delinsGAC	NCBI36
NG_007009.1:g.187212_187214delinsGAC , LRG_176:g.187212_187214delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.872_874delinsGAC
ENST00000695851.1:n.76_78delinsGAC
ENST00000695853.1:c.*755_*757delinsGAC	ENSP00000512218.1:n.*755_*757delinsGAC
ENST00000423902.7:c.7696_7698delinsGAC MANE Select	ENSP00000392028.1:p.Asp2566=
ENST00000423902.6:c.7696_7698delinsGAC	ENSP00000392028.1:p.Asp2566=
ENST00000524602.5:c.1717-1238_1717-1236delinsGAC	ENSP00000437061.1:n.1717-1238_1717-1236delinsGAC
ENST00000531695.1:n.120_122delinsGAC
ENST00000618450.1:n.88_90delinsGAC
NM_001316690.1:c.1717-1238_1717-1236delinsGAC	NP_001303619.1:n.1717-1238_1717-1236delinsGAC
NM_017780.3:c.7696_7698delinsGAC	NP_060250.2:p.Asp2566=
XM_011517553.1:c.7786_7788delinsGAC	XP_011515855.1:p.Asp2596=
XM_011517554.1:c.7786_7788delinsGAC	XP_011515856.1:p.Asp2596=
XM_011517555.1:c.7783_7785delinsGAC	XP_011515857.1:p.Asp2595=
XM_011517556.1:c.7699-1205_7699-1203delinsGAC	XP_011515858.1:n.7699-1205_7699-1203delinsGAC
XM_011517557.1:c.5773_5775delinsGAC	XP_011515859.1:p.Asp1925=
XM_011517558.1:c.5323_5325delinsGAC	XP_011515860.1:p.Asp1775=
XM_011517559.1:c.4531_4533delinsGAC	XP_011515861.1:p.Asp1511=
XM_011517553.2:c.7786_7788delinsGAC	XP_011515855.1:p.Asp2596=
XM_011517554.3:c.7786_7788delinsGAC	XP_011515856.1:p.Asp2596=
XM_011517555.2:c.7783_7785delinsGAC	XP_011515857.1:p.Asp2595=
XM_017013612.1:c.7786_7788delinsGAC	XP_016869101.1:p.Asp2596=
XM_017013613.1:c.7693_7695delinsGAC	XP_016869102.1:p.Asp2565=
NM_017780.4:c.7696_7698delinsGAC MANE Select	NP_060250.2:p.Asp2566=