Canonical Allele Identifier: CA119136944

Gene: NDUFS4

Linked Data

• dbSNP Id: rs35754713
• gnomAD v3: 5-53658784-CAAA-C
• gnomAD v4: 5-53658784-CAAA-C
• MyVariant Identifiers: chr5:g.52954615_52954617del (hg19) ; chr5:g.53658785_53658787del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658802_53658804del , CM000667.2:g.53658802_53658804del	GRCh38
NC_000005.9:g.52954632_52954634del , CM000667.1:g.52954632_52954634del	GRCh37
NC_000005.8:g.52990389_52990391del	NCBI36
NG_008200.1:g.103168_103170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+178_424+180del MANE Select	ENSP00000296684.5:n.424+178_424+180del
ENST00000296684.9:c.424+178_424+180del	ENSP00000296684.5:n.424+178_424+180del
ENST00000502423.5:c.*291+178_*291+180del	ENSP00000422177.1:n.*291+178_*291+180del
ENST00000506765.1:c.338+12397_338+12399del	ENSP00000424570.1:n.338+12397_338+12399del
ENST00000506974.5:c.*200+178_*200+180del	ENSP00000425967.1:n.*200+178_*200+180del
ENST00000507026.5:c.*398+178_*398+180del	ENSP00000424993.1:n.*398+178_*398+180del
NM_002495.2:c.424+178_424+180del	NP_002486.1:n.424+178_424+180del
XM_005248525.3:c.350+12397_350+12399del	XP_005248582.1:n.350+12397_350+12399del
XM_011543415.1:c.250+178_250+180del	XP_011541717.1:n.250+178_250+180del
NM_001318051.1:c.350+12397_350+12399del	NP_001304980.1:n.350+12397_350+12399del
NM_002495.3:c.424+178_424+180del	NP_002486.1:n.424+178_424+180del
NR_134473.1:n.626+178_626+180del
NR_134474.1:n.543+178_543+180del
NR_134475.1:n.578+178_578+180del
NM_002495.4:c.424+178_424+180del MANE Select	NP_002486.1:n.424+178_424+180del
NM_001318051.2:c.350+12397_350+12399del	NP_001304980.1:n.350+12397_350+12399del
NR_134473.2:n.620+178_620+180del
NR_134474.2:n.537+178_537+180del
NR_134475.2:n.572+178_572+180del