Canonical Allele Identifier: CA2673829445

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658719-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658720_53658721del , CM000667.2:g.53658720_53658721del	GRCh38
NC_000005.9:g.52954550_52954551del , CM000667.1:g.52954550_52954551del	GRCh37
NC_000005.8:g.52990307_52990308del	NCBI36
NG_008200.1:g.103086_103087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+96_424+97del MANE Select	ENSP00000296684.5:n.424+96_424+97del
ENST00000296684.9:c.424+96_424+97del	ENSP00000296684.5:n.424+96_424+97del
ENST00000502423.5:c.*291+96_*291+97del	ENSP00000422177.1:n.*291+96_*291+97del
ENST00000506765.1:c.338+12315_338+12316del	ENSP00000424570.1:n.338+12315_338+12316del
ENST00000506974.5:c.*200+96_*200+97del	ENSP00000425967.1:n.*200+96_*200+97del
ENST00000507026.5:c.*398+96_*398+97del	ENSP00000424993.1:n.*398+96_*398+97del
ENST00000509443.1:n.381_382del
NM_002495.2:c.424+96_424+97del	NP_002486.1:n.424+96_424+97del
XM_005248525.3:c.350+12315_350+12316del	XP_005248582.1:n.350+12315_350+12316del
XM_011543415.1:c.250+96_250+97del	XP_011541717.1:n.250+96_250+97del
NM_001318051.1:c.350+12315_350+12316del	NP_001304980.1:n.350+12315_350+12316del
NM_002495.3:c.424+96_424+97del	NP_002486.1:n.424+96_424+97del
NR_134473.1:n.626+96_626+97del
NR_134474.1:n.543+96_543+97del
NR_134475.1:n.578+96_578+97del
NM_002495.4:c.424+96_424+97del MANE Select	NP_002486.1:n.424+96_424+97del
NM_001318051.2:c.350+12315_350+12316del	NP_001304980.1:n.350+12315_350+12316del
NR_134473.2:n.620+96_620+97del
NR_134474.2:n.537+96_537+97del
NR_134475.2:n.572+96_572+97del