Canonical Allele Identifier: CA2695209407

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852860_60852878dup , CM000670.2:g.60852860_60852878dup	GRCh38
NC_000008.10:g.61765419_61765437dup , CM000670.1:g.61765419_61765437dup	GRCh37
NC_000008.9:g.61927973_61927991dup	NCBI36
NG_007009.1:g.179081_179099dup , LRG_176:g.179081_179099dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.6135_6153dup	ENSP00000512218.1:p.Ser2052AspfsTer14
ENST00000423902.7:c.6135_6153dup MANE Select	ENSP00000392028.1:p.Ser2052AspfsTer14
ENST00000423902.6:c.6135_6153dup	ENSP00000392028.1:p.Ser2052AspfsTer14
ENST00000524602.5:c.1717-9369_1717-9351dup	ENSP00000437061.1:n.1717-9369_1717-9351du...
NM_001316690.1:c.1717-9369_1717-9351dup	NP_001303619.1:n.1717-9369_1717-9351dup
NM_017780.3:c.6135_6153dup	NP_060250.2:p.Ser2052AspfsTer14
XM_011517553.1:c.6225_6243dup	XP_011515855.1:p.Ser2082AspfsTer14
XM_011517554.1:c.6225_6243dup	XP_011515856.1:p.Ser2082AspfsTer14
XM_011517555.1:c.6225_6243dup	XP_011515857.1:p.Ser2082AspfsTer14
XM_011517556.1:c.6225_6243dup	XP_011515858.1:p.Ser2082AspfsTer14
XM_011517557.1:c.4212_4230dup	XP_011515859.1:p.Ser1411AspfsTer14
XM_011517558.1:c.3762_3780dup	XP_011515860.1:p.Ser1261AspfsTer14
XM_011517559.1:c.2970_2988dup	XP_011515861.1:p.Ser997AspfsTer14
XM_011517553.2:c.6225_6243dup	XP_011515855.1:p.Ser2082AspfsTer14
XM_011517554.3:c.6225_6243dup	XP_011515856.1:p.Ser2082AspfsTer14
XM_011517555.2:c.6225_6243dup	XP_011515857.1:p.Ser2082AspfsTer14
XM_017013612.1:c.6225_6243dup	XP_016869101.1:p.Ser2082AspfsTer14
XM_017013613.1:c.6135_6153dup	XP_016869102.1:p.Ser2052AspfsTer14
NM_017780.4:c.6135_6153dup MANE Select	NP_060250.2:p.Ser2052AspfsTer14