Canonical Allele Identifier: CA3264296

Gene: NDUFS4

Linked Data

• dbSNP Id: rs748829913
• ExAC: 5:52954403 G / GTTCTAAC
• gnomAD v2: 5-52954403-G-GTTCTAAC
• gnomAD v4: 5-53658573-G-GTTCTAAC
• MyVariant Identifiers: chr5:g.52954403_52954404insTTCTAAC (hg19) ; chr5:g.53658573_53658574insTTCTAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658574_53658580dup , CM000667.2:g.53658574_53658580dup	GRCh38
NC_000005.9:g.52954404_52954410dup , CM000667.1:g.52954404_52954410dup	GRCh37
NC_000005.8:g.52990161_52990167dup	NCBI36
NG_008200.1:g.102940_102946dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.374_380dup MANE Select	ENSP00000296684.5:p.Phe128SerfsTer6
ENST00000296684.9:c.374_380dup	ENSP00000296684.5:p.Phe128SerfsTer6
ENST00000502423.5:c.*241_*247dup	ENSP00000422177.1:n.*241_*247dup
ENST00000506765.1:c.338+12169_338+12175dup	ENSP00000424570.1:n.338+12169_338+12175dup
ENST00000506974.5:c.*150_*156dup	ENSP00000425967.1:n.*150_*156dup
ENST00000507026.5:c.*348_*354dup	ENSP00000424993.1:n.*348_*354dup
ENST00000509443.1:n.235_241dup
NM_002495.2:c.374_380dup	NP_002486.1:p.Phe128SerfsTer6
XM_005248525.3:c.350+12169_350+12175dup	XP_005248582.1:n.350+12169_350+12175dup
XM_011543415.1:c.200_206dup	XP_011541717.1:p.Phe70SerfsTer6
NM_001318051.1:c.350+12169_350+12175dup	NP_001304980.1:n.350+12169_350+12175dup
NM_002495.3:c.374_380dup	NP_002486.1:p.Phe128SerfsTer6
NR_134473.1:n.576_582dup
NR_134474.1:n.493_499dup
NR_134475.1:n.528_534dup
NM_002495.4:c.374_380dup MANE Select	NP_002486.1:p.Phe128SerfsTer6
NM_001318051.2:c.350+12169_350+12175dup	NP_001304980.1:n.350+12169_350+12175dup
NR_134473.2:n.570_576dup
NR_134474.2:n.487_493dup
NR_134475.2:n.522_528dup