Canonical Allele Identifier: CA1076121841

Gene: NDUFS4

Linked Data

• gnomAD v3: 5-53658784-C-CAAAAAAAAAAAAAAAAAAAAAAACAAAAA
• gnomAD v4: 5-53658784-C-CAAAAAAAAAAAAAAAAAAAAAAACAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658804_53658805insAAACAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.2:g.53658804_53658805insAAACAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000005.9:g.52954634_52954635insAAACAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.1:g.52954634_52954635insAAACAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000005.8:g.52990391_52990392insAAACAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_008200.1:g.103170_103171insAAACAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+180_424+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000296684.5:n.424+180_424+181insAAACAAAAAAAAAAAAAAAAAAA...
ENST00000296684.9:c.424+180_424+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000296684.5:n.424+180_424+181insAAACAAAAAAAAAAAAAAAAAAA...
ENST00000502423.5:c.*291+180_*291+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000422177.1:n.*291+180_*291+181insAAACAAAAAAAAAAAAAAAAA...
ENST00000506765.1:c.338+12399_338+12400insAAACAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000424570.1:n.338+12399_338+12400insAAACAAAAAAAAAAAAAAA...
ENST00000506974.5:c.*200+180_*200+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000425967.1:n.*200+180_*200+181insAAACAAAAAAAAAAAAAAAAA...
ENST00000507026.5:c.*398+180_*398+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000424993.1:n.*398+180_*398+181insAAACAAAAAAAAAAAAAAAAA...
NM_002495.2:c.424+180_424+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA	NP_002486.1:n.424+180_424+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_005248525.3:c.350+12399_350+12400insAAACAAAAAAAAAAAAAAAAAAAAAAAAA	XP_005248582.1:n.350+12399_350+12400insAAACAAAAAAAAAAAAAAAAAA...
XM_011543415.1:c.250+180_250+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011541717.1:n.250+180_250+181insAAACAAAAAAAAAAAAAAAAAAAAAA...
NM_001318051.1:c.350+12399_350+12400insAAACAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001304980.1:n.350+12399_350+12400insAAACAAAAAAAAAAAAAAAAAA...
NM_002495.3:c.424+180_424+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA	NP_002486.1:n.424+180_424+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA...
NR_134473.1:n.626+180_626+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA
NR_134474.1:n.543+180_543+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA
NR_134475.1:n.578+180_578+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA
NM_002495.4:c.424+180_424+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_002486.1:n.424+180_424+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001318051.2:c.350+12399_350+12400insAAACAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001304980.1:n.350+12399_350+12400insAAACAAAAAAAAAAAAAAAAAA...
NR_134473.2:n.620+180_620+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA
NR_134474.2:n.537+180_537+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA
NR_134475.2:n.572+180_572+181insAAACAAAAAAAAAAAAAAAAAAAAAAAAA