Canonical Allele Identifier: CA1546666325

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1752233456
• gnomAD v4: 5-53658678-CTTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658683_53658686del , CM000667.2:g.53658683_53658686del	GRCh38
NC_000005.9:g.52954513_52954516del , CM000667.1:g.52954513_52954516del	GRCh37
NC_000005.8:g.52990270_52990273del	NCBI36
NG_008200.1:g.103049_103052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+59_424+62del MANE Select	ENSP00000296684.5:n.424+59_424+62del
ENST00000296684.9:c.424+59_424+62del	ENSP00000296684.5:n.424+59_424+62del
ENST00000502423.5:c.*291+59_*291+62del	ENSP00000422177.1:n.*291+59_*291+62del
ENST00000506765.1:c.338+12278_338+12281del	ENSP00000424570.1:n.338+12278_338+12281del
ENST00000506974.5:c.*200+59_*200+62del	ENSP00000425967.1:n.*200+59_*200+62del
ENST00000507026.5:c.*398+59_*398+62del	ENSP00000424993.1:n.*398+59_*398+62del
ENST00000509443.1:n.344_347del
NM_002495.2:c.424+59_424+62del	NP_002486.1:n.424+59_424+62del
XM_005248525.3:c.350+12278_350+12281del	XP_005248582.1:n.350+12278_350+12281del
XM_011543415.1:c.250+59_250+62del	XP_011541717.1:n.250+59_250+62del
NM_001318051.1:c.350+12278_350+12281del	NP_001304980.1:n.350+12278_350+12281del
NM_002495.3:c.424+59_424+62del	NP_002486.1:n.424+59_424+62del
NR_134473.1:n.626+59_626+62del
NR_134474.1:n.543+59_543+62del
NR_134475.1:n.578+59_578+62del
NM_002495.4:c.424+59_424+62del MANE Select	NP_002486.1:n.424+59_424+62del
NM_001318051.2:c.350+12278_350+12281del	NP_001304980.1:n.350+12278_350+12281del
NR_134473.2:n.620+59_620+62del
NR_134474.2:n.537+59_537+62del
NR_134475.2:n.572+59_572+62del