Canonical Allele Identifier: CA2695209396

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852581_60852584del , CM000670.2:g.60852581_60852584del	GRCh38
NC_000008.10:g.61765140_61765143del , CM000670.1:g.61765140_61765143del	GRCh37
NC_000008.9:g.61927694_61927697del	NCBI36
NG_007009.1:g.178802_178805del , LRG_176:g.178802_178805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5978_5981del	ENSP00000512218.1:p.Asp1993GlyfsTer?
ENST00000423902.7:c.5978_5981del MANE Select	ENSP00000392028.1:p.Asp1993GlyfsTer?
ENST00000423902.6:c.5978_5981del	ENSP00000392028.1:p.Asp1993GlyfsTer?
ENST00000524602.5:c.1717-9648_1717-9645del	ENSP00000437061.1:n.1717-9648_1717-9645del
ENST00000527921.1:n.469_472del
NM_001316690.1:c.1717-9648_1717-9645del	NP_001303619.1:n.1717-9648_1717-9645del
NM_017780.3:c.5978_5981del	NP_060250.2:p.Asp1993GlyfsTer?
XM_011517553.1:c.6068_6071del	XP_011515855.1:p.Asp2023GlyfsTer?
XM_011517554.1:c.6068_6071del	XP_011515856.1:p.Asp2023GlyfsTer?
XM_011517555.1:c.6068_6071del	XP_011515857.1:p.Asp2023GlyfsTer?
XM_011517556.1:c.6068_6071del	XP_011515858.1:p.Asp2023GlyfsTer?
XM_011517557.1:c.4055_4058del	XP_011515859.1:p.Asp1352GlyfsTer?
XM_011517558.1:c.3605_3608del	XP_011515860.1:p.Asp1202GlyfsTer?
XM_011517559.1:c.2813_2816del	XP_011515861.1:p.Asp938GlyfsTer?
XM_011517553.2:c.6068_6071del	XP_011515855.1:p.Asp2023GlyfsTer?
XM_011517554.3:c.6068_6071del	XP_011515856.1:p.Asp2023GlyfsTer?
XM_011517555.2:c.6068_6071del	XP_011515857.1:p.Asp2023GlyfsTer?
XM_017013612.1:c.6068_6071del	XP_016869101.1:p.Asp2023GlyfsTer?
XM_017013613.1:c.5978_5981del	XP_016869102.1:p.Asp1993GlyfsTer?
NM_017780.4:c.5978_5981del MANE Select	NP_060250.2:p.Asp1993GlyfsTer?