Canonical Allele Identifier: CA2780535780

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852608_60852609insTATAAGAAGTTTATGCTGTAAA , CM000670.2:g.60852608_60852609insTATAAGAAGTTTATGCTGTAAA	GRCh38
NC_000008.10:g.61765167_61765168insTATAAGAAGTTTATGCTGTAAA , CM000670.1:g.61765167_61765168insTATAAGAAGTTTATGCTGTAAA	GRCh37
NC_000008.9:g.61927721_61927722insTATAAGAAGTTTATGCTGTAAA	NCBI36
NG_007009.1:g.178829_178830insTATAAGAAGTTTATGCTGTAAA , LRG_176:g.178829_178830insTATAAGAAGTTTATGCTGTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6005_6006insTATAAGAAGTTTATGCTGTAAA	ENSP00000512218.1:p.Arg2002SerfsTer10
ENST00000423902.7:c.6005_6006insTATAAGAAGTTTATGCTGTAAA MANE Select	ENSP00000392028.1:p.Arg2002SerfsTer10
ENST00000423902.6:c.6005_6006insTATAAGAAGTTTATGCTGTAAA	ENSP00000392028.1:p.Arg2002SerfsTer10
ENST00000524602.5:c.1717-9621_1717-9620insTATAAGAAGTTTATGCTGTAAA	ENSP00000437061.1:n.1717-9621_1717-9620insTATAAGAAGTTTATGCTGT...
ENST00000527921.1:n.496_497insTATAAGAAGTTTATGCTGTAAA
NM_001316690.1:c.1717-9621_1717-9620insTATAAGAAGTTTATGCTGTAAA	NP_001303619.1:n.1717-9621_1717-9620insTATAAGAAGTTTATGCTGTAAA...
NM_017780.3:c.6005_6006insTATAAGAAGTTTATGCTGTAAA	NP_060250.2:p.Arg2002SerfsTer10
XM_011517553.1:c.6095_6096insTATAAGAAGTTTATGCTGTAAA	XP_011515855.1:p.Arg2032SerfsTer10
XM_011517554.1:c.6095_6096insTATAAGAAGTTTATGCTGTAAA	XP_011515856.1:p.Arg2032SerfsTer10
XM_011517555.1:c.6095_6096insTATAAGAAGTTTATGCTGTAAA	XP_011515857.1:p.Arg2032SerfsTer10
XM_011517556.1:c.6095_6096insTATAAGAAGTTTATGCTGTAAA	XP_011515858.1:p.Arg2032SerfsTer10
XM_011517557.1:c.4082_4083insTATAAGAAGTTTATGCTGTAAA	XP_011515859.1:p.Arg1361SerfsTer10
XM_011517558.1:c.3632_3633insTATAAGAAGTTTATGCTGTAAA	XP_011515860.1:p.Arg1211SerfsTer10
XM_011517559.1:c.2840_2841insTATAAGAAGTTTATGCTGTAAA	XP_011515861.1:p.Arg947SerfsTer10
XM_011517553.2:c.6095_6096insTATAAGAAGTTTATGCTGTAAA	XP_011515855.1:p.Arg2032SerfsTer10
XM_011517554.3:c.6095_6096insTATAAGAAGTTTATGCTGTAAA	XP_011515856.1:p.Arg2032SerfsTer10
XM_011517555.2:c.6095_6096insTATAAGAAGTTTATGCTGTAAA	XP_011515857.1:p.Arg2032SerfsTer10
XM_017013612.1:c.6095_6096insTATAAGAAGTTTATGCTGTAAA	XP_016869101.1:p.Arg2032SerfsTer10
XM_017013613.1:c.6005_6006insTATAAGAAGTTTATGCTGTAAA	XP_016869102.1:p.Arg2002SerfsTer10
NM_017780.4:c.6005_6006insTATAAGAAGTTTATGCTGTAAA MANE Select	NP_060250.2:p.Arg2002SerfsTer10