Canonical Allele Identifier: CA2673829542

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658794-A-AAAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658798_53658799insCAAAA , CM000667.2:g.53658798_53658799insCAAAA	GRCh38
NC_000005.9:g.52954628_52954629insCAAAA , CM000667.1:g.52954628_52954629insCAAAA	GRCh37
NC_000005.8:g.52990385_52990386insCAAAA	NCBI36
NG_008200.1:g.103164_103165insCAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+174_424+175insCAAAA MANE Select	ENSP00000296684.5:n.424+174_424+175insCAAAA
ENST00000296684.9:c.424+174_424+175insCAAAA	ENSP00000296684.5:n.424+174_424+175insCAAAA
ENST00000502423.5:c.*291+174_*291+175insCAAAA	ENSP00000422177.1:n.*291+174_*291+175insCAAAA
ENST00000506765.1:c.338+12393_338+12394insCAAAA	ENSP00000424570.1:n.338+12393_338+12394insCAAAA
ENST00000506974.5:c.*200+174_*200+175insCAAAA	ENSP00000425967.1:n.*200+174_*200+175insCAAAA
ENST00000507026.5:c.*398+174_*398+175insCAAAA	ENSP00000424993.1:n.*398+174_*398+175insCAAAA
NM_002495.2:c.424+174_424+175insCAAAA	NP_002486.1:n.424+174_424+175insCAAAA
XM_005248525.3:c.350+12393_350+12394insCAAAA	XP_005248582.1:n.350+12393_350+12394insCAAAA
XM_011543415.1:c.250+174_250+175insCAAAA	XP_011541717.1:n.250+174_250+175insCAAAA
NM_001318051.1:c.350+12393_350+12394insCAAAA	NP_001304980.1:n.350+12393_350+12394insCAAAA
NM_002495.3:c.424+174_424+175insCAAAA	NP_002486.1:n.424+174_424+175insCAAAA
NR_134473.1:n.626+174_626+175insCAAAA
NR_134474.1:n.543+174_543+175insCAAAA
NR_134475.1:n.578+174_578+175insCAAAA
NM_002495.4:c.424+174_424+175insCAAAA MANE Select	NP_002486.1:n.424+174_424+175insCAAAA
NM_001318051.2:c.350+12393_350+12394insCAAAA	NP_001304980.1:n.350+12393_350+12394insCAAAA
NR_134473.2:n.620+174_620+175insCAAAA
NR_134474.2:n.537+174_537+175insCAAAA
NR_134475.2:n.572+174_572+175insCAAAA