Canonical Allele Identifier: CA2766484948

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646270_53646278del , CM000667.2:g.53646270_53646278del	GRCh38
NC_000005.9:g.52942100_52942108del , CM000667.1:g.52942100_52942108del	GRCh37
NC_000005.8:g.52977857_52977865del	NCBI36
NG_008200.1:g.90636_90644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.215_223del MANE Select	ENSP00000296684.5:p.Ile72_Thr74del
ENST00000296684.9:c.215_223del	ENSP00000296684.5:p.Ile72_Thr74del
ENST00000502423.5:c.*82_*90del	ENSP00000422177.1:n.*82_*90del
ENST00000506765.1:c.203_211del	ENSP00000424570.1:p.Ile68_Thr70del
ENST00000506974.5:c.387_395del	ENSP00000425967.1:p.Tyr129Ter
ENST00000507026.5:c.*189_*197del	ENSP00000424993.1:n.*189_*197del
ENST00000509443.1:n.76_84del
NM_002495.2:c.215_223del	NP_002486.1:p.Ile72_Thr74del
XM_005248525.3:c.215_223del	XP_005248582.1:p.Ile72_Thr74del
XM_011543415.1:c.41_49del	XP_011541717.1:p.Ile14_Thr16del
NM_001318051.1:c.215_223del	NP_001304980.1:p.Ile72_Thr74del
NM_002495.3:c.215_223del	NP_002486.1:p.Ile72_Thr74del
NR_134473.1:n.417_425del
NR_134474.1:n.334_342del
NR_134475.1:n.369_377del
NM_002495.4:c.215_223del MANE Select	NP_002486.1:p.Ile72_Thr74del
NM_001318051.2:c.215_223del	NP_001304980.1:p.Ile72_Thr74del
NR_134473.2:n.411_419del
NR_134474.2:n.328_336del
NR_134475.2:n.363_371del