Canonical Allele Identifier: CA1546620684

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560670_53560685delinsCGGTGTCAATGTCAGT , CM000667.2:g.53560670_53560685delinsCGGTGTCAATGTCAGT	GRCh38
NC_000005.9:g.52856500_52856515delinsCGGTGTCAATGTCAGT , CM000667.1:g.52856500_52856515delinsCGGTGTCAATGTCAGT	GRCh37
NC_000005.8:g.52892257_52892272delinsCGGTGTCAATGTCAGT	NCBI36
NG_008200.1:g.5036_5051delinsCGGTGTCAATGTCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.8_23delinsCGGTGTCAATGTCAGT MANE Select	ENSP00000296684.5:p.Ala3=
ENST00000296684.9:c.8_23delinsCGGTGTCAATGTCAGT	ENSP00000296684.5:p.Ala3=
ENST00000502423.5:c.8_23delinsCGGTGTCAATGTCAGT	ENSP00000422177.1:p.Ala3=
ENST00000506974.5:c.8_23delinsCGGTGTCAATGTCAGT	ENSP00000425967.1:p.Ala3=
ENST00000507026.5:c.8_23delinsCGGTGTCAATGTCAGT	ENSP00000424993.1:p.Ala3=
NM_002495.2:c.8_23delinsCGGTGTCAATGTCAGT	NP_002486.1:p.Ala3=
XM_005248525.3:c.8_23delinsCGGTGTCAATGTCAGT	XP_005248582.1:p.Ala3=
XM_011543414.1:c.8_23delinsCGGTGTCAATGTCAGT	XP_011541716.1:p.Ala3=
NM_001318051.1:c.8_23delinsCGGTGTCAATGTCAGT	NP_001304980.1:p.Ala3=
NM_002495.3:c.8_23delinsCGGTGTCAATGTCAGT	NP_002486.1:p.Ala3=
NR_134473.1:n.38_53delinsCGGTGTCAATGTCAGT
NR_134474.1:n.38_53delinsCGGTGTCAATGTCAGT
NR_134475.1:n.38_53delinsCGGTGTCAATGTCAGT
XM_017009491.1:c.8_23delinsCGGTGTCAATGTCAGT	XP_016864980.1:p.Ala3=
NM_002495.4:c.8_23delinsCGGTGTCAATGTCAGT MANE Select	NP_002486.1:p.Ala3=
NM_001318051.2:c.8_23delinsCGGTGTCAATGTCAGT	NP_001304980.1:p.Ala3=
NR_134473.2:n.32_47delinsCGGTGTCAATGTCAGT
NR_134474.2:n.32_47delinsCGGTGTCAATGTCAGT
NR_134475.2:n.32_47delinsCGGTGTCAATGTCAGT