Canonical Allele Identifier: CA2673829206

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646208-G-GTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646216_53646217dup , CM000667.2:g.53646216_53646217dup	GRCh38
NC_000005.9:g.52942046_52942047dup , CM000667.1:g.52942046_52942047dup	GRCh37
NC_000005.8:g.52977803_52977804dup	NCBI36
NG_008200.1:g.90582_90583dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.178-17_178-16dup MANE Select	ENSP00000296684.5:n.178-17_178-16dup
ENST00000296684.9:c.178-17_178-16dup	ENSP00000296684.5:n.178-17_178-16dup
ENST00000502423.5:c.*45-17_*45-16dup	ENSP00000422177.1:n.*45-17_*45-16dup
ENST00000506765.1:c.166-17_166-16dup	ENSP00000424570.1:n.166-17_166-16dup
ENST00000506974.5:c.350-17_350-16dup	ENSP00000425967.1:n.350-17_350-16dup
ENST00000507026.5:c.*152-17_*152-16dup	ENSP00000424993.1:n.*152-17_*152-16dup
ENST00000509443.1:n.22_23dup
NM_002495.2:c.178-17_178-16dup	NP_002486.1:n.178-17_178-16dup
XM_005248525.3:c.178-17_178-16dup	XP_005248582.1:n.178-17_178-16dup
XM_011543415.1:c.4-17_4-16dup	XP_011541717.1:n.4-17_4-16dup
NM_001318051.1:c.178-17_178-16dup	NP_001304980.1:n.178-17_178-16dup
NM_002495.3:c.178-17_178-16dup	NP_002486.1:n.178-17_178-16dup
NR_134473.1:n.380-17_380-16dup
NR_134474.1:n.297-17_297-16dup
NR_134475.1:n.332-17_332-16dup
NM_002495.4:c.178-17_178-16dup MANE Select	NP_002486.1:n.178-17_178-16dup
NM_001318051.2:c.178-17_178-16dup	NP_001304980.1:n.178-17_178-16dup
NR_134473.2:n.374-17_374-16dup
NR_134474.2:n.291-17_291-16dup
NR_134475.2:n.326-17_326-16dup