Canonical Allele Identifier: CA2840391576

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852850dup , CM000670.2:g.60852850dup	GRCh38
NC_000008.10:g.61765409dup , CM000670.1:g.61765409dup	GRCh37
NC_000008.9:g.61927963dup	NCBI36
NG_007009.1:g.179071dup , LRG_176:g.179071dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6125dup	ENSP00000512218.1:p.Ile2043AsnfsTer2
ENST00000423902.7:c.6125dup MANE Select	ENSP00000392028.1:p.Ile2043AsnfsTer2
ENST00000423902.6:c.6125dup	ENSP00000392028.1:p.Ile2043AsnfsTer2
ENST00000524602.5:c.1717-9379dup	ENSP00000437061.1:n.1717-9379dup
NM_001316690.1:c.1717-9379dup	NP_001303619.1:n.1717-9379dup
NM_017780.3:c.6125dup	NP_060250.2:p.Ile2043AsnfsTer2
XM_011517553.1:c.6215dup	XP_011515855.1:p.Ile2073AsnfsTer2
XM_011517554.1:c.6215dup	XP_011515856.1:p.Ile2073AsnfsTer2
XM_011517555.1:c.6215dup	XP_011515857.1:p.Ile2073AsnfsTer2
XM_011517556.1:c.6215dup	XP_011515858.1:p.Ile2073AsnfsTer2
XM_011517557.1:c.4202dup	XP_011515859.1:p.Ile1402AsnfsTer2
XM_011517558.1:c.3752dup	XP_011515860.1:p.Ile1252AsnfsTer2
XM_011517559.1:c.2960dup	XP_011515861.1:p.Ile988AsnfsTer2
XM_011517553.2:c.6215dup	XP_011515855.1:p.Ile2073AsnfsTer2
XM_011517554.3:c.6215dup	XP_011515856.1:p.Ile2073AsnfsTer2
XM_011517555.2:c.6215dup	XP_011515857.1:p.Ile2073AsnfsTer2
XM_017013612.1:c.6215dup	XP_016869101.1:p.Ile2073AsnfsTer2
XM_017013613.1:c.6125dup	XP_016869102.1:p.Ile2043AsnfsTer2
NM_017780.4:c.6125dup MANE Select	NP_060250.2:p.Ile2043AsnfsTer2