Canonical Allele Identifier: CA559656582

Gene: NDUFS4

Linked Data

• gnomAD v2: 5-52954634-ACC-A
• gnomAD v3: 5-53658804-ACC-A
• gnomAD v4: 5-53658804-ACC-A
• MyVariant Identifiers: chr5:g.52954635_52954636del (hg19) ; chr5:g.53658805_53658806del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658805_53658806del , CM000667.2:g.53658805_53658806del	GRCh38
NC_000005.9:g.52954635_52954636del , CM000667.1:g.52954635_52954636del	GRCh37
NC_000005.8:g.52990392_52990393del	NCBI36
NG_008200.1:g.103171_103172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+181_424+182del MANE Select	ENSP00000296684.5:n.424+181_424+182del
ENST00000296684.9:c.424+181_424+182del	ENSP00000296684.5:n.424+181_424+182del
ENST00000502423.5:c.*291+181_*291+182del	ENSP00000422177.1:n.*291+181_*291+182del
ENST00000506765.1:c.338+12400_338+12401del	ENSP00000424570.1:n.338+12400_338+12401del
ENST00000506974.5:c.*200+181_*200+182del	ENSP00000425967.1:n.*200+181_*200+182del
ENST00000507026.5:c.*398+181_*398+182del	ENSP00000424993.1:n.*398+181_*398+182del
NM_002495.2:c.424+181_424+182del	NP_002486.1:n.424+181_424+182del
XM_005248525.3:c.350+12400_350+12401del	XP_005248582.1:n.350+12400_350+12401del
XM_011543415.1:c.250+181_250+182del	XP_011541717.1:n.250+181_250+182del
NM_001318051.1:c.350+12400_350+12401del	NP_001304980.1:n.350+12400_350+12401del
NM_002495.3:c.424+181_424+182del	NP_002486.1:n.424+181_424+182del
NR_134473.1:n.626+181_626+182del
NR_134474.1:n.543+181_543+182del
NR_134475.1:n.578+181_578+182del
NM_002495.4:c.424+181_424+182del MANE Select	NP_002486.1:n.424+181_424+182del
NM_001318051.2:c.350+12400_350+12401del	NP_001304980.1:n.350+12400_350+12401del
NR_134473.2:n.620+181_620+182del
NR_134474.2:n.537+181_537+182del
NR_134475.2:n.572+181_572+182del