Canonical Allele Identifier: CA2695209601

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60781269_60781270dup , CM000670.2:g.60781269_60781270dup	GRCh38
NC_000008.10:g.61693828_61693829dup , CM000670.1:g.61693828_61693829dup	GRCh37
NC_000008.9:g.61856382_61856383dup	NCBI36
NG_007009.1:g.107490_107491dup , LRG_176:g.107490_107491dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2448_2449dup
ENST00000695849.1:n.2448_2449dup
ENST00000695853.1:c.1935_1936dup	ENSP00000512218.1:p.Arg646LysfsTer?
ENST00000423902.7:c.1935_1936dup MANE Select	ENSP00000392028.1:p.Arg646LysfsTer?
ENST00000423902.6:c.1935_1936dup	ENSP00000392028.1:p.Arg646LysfsTer?
ENST00000524602.5:c.1716+219_1716+220dup	ENSP00000437061.1:n.1716+219_1716+220dup
ENST00000525508.1:c.1935_1936dup	ENSP00000436027.1:p.Arg646LysfsTer?
ENST00000527900.1:c.117+219_117+220dup	ENSP00000433336.1:n.117+219_117+220dup
NM_001316690.1:c.1716+219_1716+220dup	NP_001303619.1:n.1716+219_1716+220dup
NM_017780.3:c.1935_1936dup	NP_060250.2:p.Arg646LysfsTer?
XM_011517553.1:c.1935_1936dup	XP_011515855.1:p.Arg646LysfsTer?
XM_011517554.1:c.1935_1936dup	XP_011515856.1:p.Arg646LysfsTer?
XM_011517555.1:c.1935_1936dup	XP_011515857.1:p.Arg646LysfsTer?
XM_011517556.1:c.1935_1936dup	XP_011515858.1:p.Arg646LysfsTer?
XM_011517560.1:c.1935_1936dup	XP_011515862.1:p.Arg646LysfsTer?
XM_011517553.2:c.1935_1936dup	XP_011515855.1:p.Arg646LysfsTer?
XM_011517554.3:c.1935_1936dup	XP_011515856.1:p.Arg646LysfsTer?
XM_011517555.2:c.1935_1936dup	XP_011515857.1:p.Arg646LysfsTer?
XM_011517560.2:c.1935_1936dup	XP_011515862.1:p.Arg646LysfsTer?
XM_017013612.1:c.1935_1936dup	XP_016869101.1:p.Arg646LysfsTer?
XM_017013613.1:c.1935_1936dup	XP_016869102.1:p.Arg646LysfsTer?
NM_017780.4:c.1935_1936dup MANE Select	NP_060250.2:p.Arg646LysfsTer?