Canonical Allele Identifier: CA2780535020

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853006_60853007insTAA , CM000670.2:g.60853006_60853007insTAA	GRCh38
NC_000008.10:g.61765565_61765566insTAA , CM000670.1:g.61765565_61765566insTAA	GRCh37
NC_000008.9:g.61928119_61928120insTAA	NCBI36
NG_007009.1:g.179227_179228insTAA , LRG_176:g.179227_179228insTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6281_6282insTAA	ENSP00000512218.1:p.Gly2094_Arg2095insLys
ENST00000423902.7:c.6281_6282insTAA MANE Select	ENSP00000392028.1:p.Gly2094_Arg2095insLys
ENST00000423902.6:c.6281_6282insTAA	ENSP00000392028.1:p.Gly2094_Arg2095insLys
ENST00000524602.5:c.1717-9223_1717-9222insTAA	ENSP00000437061.1:n.1717-9223_1717-9222insTAA
NM_001316690.1:c.1717-9223_1717-9222insTAA	NP_001303619.1:n.1717-9223_1717-9222insTAA
NM_017780.3:c.6281_6282insTAA	NP_060250.2:p.Gly2094_Arg2095insLys
XM_011517553.1:c.6371_6372insTAA	XP_011515855.1:p.Gly2124_Arg2125insLys
XM_011517554.1:c.6371_6372insTAA	XP_011515856.1:p.Gly2124_Arg2125insLys
XM_011517555.1:c.6371_6372insTAA	XP_011515857.1:p.Gly2124_Arg2125insLys
XM_011517556.1:c.6371_6372insTAA	XP_011515858.1:p.Gly2124_Arg2125insLys
XM_011517557.1:c.4358_4359insTAA	XP_011515859.1:p.Gly1453_Arg1454insLys
XM_011517558.1:c.3908_3909insTAA	XP_011515860.1:p.Gly1303_Arg1304insLys
XM_011517559.1:c.3116_3117insTAA	XP_011515861.1:p.Gly1039_Arg1040insLys
XM_011517553.2:c.6371_6372insTAA	XP_011515855.1:p.Gly2124_Arg2125insLys
XM_011517554.3:c.6371_6372insTAA	XP_011515856.1:p.Gly2124_Arg2125insLys
XM_011517555.2:c.6371_6372insTAA	XP_011515857.1:p.Gly2124_Arg2125insLys
XM_017013612.1:c.6371_6372insTAA	XP_016869101.1:p.Gly2124_Arg2125insLys
XM_017013613.1:c.6281_6282insTAA	XP_016869102.1:p.Gly2094_Arg2095insLys
NM_017780.4:c.6281_6282insTAA MANE Select	NP_060250.2:p.Gly2094_Arg2095insLys