Canonical Allele Identifier: CA2780535036

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853028_60853030dup , CM000670.2:g.60853028_60853030dup	GRCh38
NC_000008.10:g.61765587_61765589dup , CM000670.1:g.61765587_61765589dup	GRCh37
NC_000008.9:g.61928141_61928143dup	NCBI36
NG_007009.1:g.179249_179251dup , LRG_176:g.179249_179251dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6303_6305dup	ENSP00000512218.1:p.Val2102_Gly2103insVal
ENST00000423902.7:c.6303_6305dup MANE Select	ENSP00000392028.1:p.Val2102_Gly2103insVal
ENST00000423902.6:c.6303_6305dup	ENSP00000392028.1:p.Val2102_Gly2103insVal
ENST00000524602.5:c.1717-9201_1717-9199dup	ENSP00000437061.1:n.1717-9201_1717-9199dup
NM_001316690.1:c.1717-9201_1717-9199dup	NP_001303619.1:n.1717-9201_1717-9199dup
NM_017780.3:c.6303_6305dup	NP_060250.2:p.Val2102_Gly2103insVal
XM_011517553.1:c.6393_6395dup	XP_011515855.1:p.Val2132_Gly2133insVal
XM_011517554.1:c.6393_6395dup	XP_011515856.1:p.Val2132_Gly2133insVal
XM_011517555.1:c.6393_6395dup	XP_011515857.1:p.Val2132_Gly2133insVal
XM_011517556.1:c.6393_6395dup	XP_011515858.1:p.Val2132_Gly2133insVal
XM_011517557.1:c.4380_4382dup	XP_011515859.1:p.Val1461_Gly1462insVal
XM_011517558.1:c.3930_3932dup	XP_011515860.1:p.Val1311_Gly1312insVal
XM_011517559.1:c.3138_3140dup	XP_011515861.1:p.Val1047_Gly1048insVal
XM_011517553.2:c.6393_6395dup	XP_011515855.1:p.Val2132_Gly2133insVal
XM_011517554.3:c.6393_6395dup	XP_011515856.1:p.Val2132_Gly2133insVal
XM_011517555.2:c.6393_6395dup	XP_011515857.1:p.Val2132_Gly2133insVal
XM_017013612.1:c.6393_6395dup	XP_016869101.1:p.Val2132_Gly2133insVal
XM_017013613.1:c.6303_6305dup	XP_016869102.1:p.Val2102_Gly2103insVal
NM_017780.4:c.6303_6305dup MANE Select	NP_060250.2:p.Val2102_Gly2103insVal