Canonical Allele Identifier: CA2673829496

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658764-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658765_53658766insAA , CM000667.2:g.53658765_53658766insAA	GRCh38
NC_000005.9:g.52954595_52954596insAA , CM000667.1:g.52954595_52954596insAA	GRCh37
NC_000005.8:g.52990352_52990353insAA	NCBI36
NG_008200.1:g.103131_103132insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+141_424+142insAA MANE Select	ENSP00000296684.5:n.424+141_424+142insAA
ENST00000296684.9:c.424+141_424+142insAA	ENSP00000296684.5:n.424+141_424+142insAA
ENST00000502423.5:c.*291+141_*291+142insAA	ENSP00000422177.1:n.*291+141_*291+142insAA
ENST00000506765.1:c.338+12360_338+12361insAA	ENSP00000424570.1:n.338+12360_338+12361insAA
ENST00000506974.5:c.*200+141_*200+142insAA	ENSP00000425967.1:n.*200+141_*200+142insAA
ENST00000507026.5:c.*398+141_*398+142insAA	ENSP00000424993.1:n.*398+141_*398+142insAA
ENST00000509443.1:n.426_427insAA
NM_002495.2:c.424+141_424+142insAA	NP_002486.1:n.424+141_424+142insAA
XM_005248525.3:c.350+12360_350+12361insAA	XP_005248582.1:n.350+12360_350+12361insAA
XM_011543415.1:c.250+141_250+142insAA	XP_011541717.1:n.250+141_250+142insAA
NM_001318051.1:c.350+12360_350+12361insAA	NP_001304980.1:n.350+12360_350+12361insAA
NM_002495.3:c.424+141_424+142insAA	NP_002486.1:n.424+141_424+142insAA
NR_134473.1:n.626+141_626+142insAA
NR_134474.1:n.543+141_543+142insAA
NR_134475.1:n.578+141_578+142insAA
NM_002495.4:c.424+141_424+142insAA MANE Select	NP_002486.1:n.424+141_424+142insAA
NM_001318051.2:c.350+12360_350+12361insAA	NP_001304980.1:n.350+12360_350+12361insAA
NR_134473.2:n.620+141_620+142insAA
NR_134474.2:n.537+141_537+142insAA
NR_134475.2:n.572+141_572+142insAA