Canonical Allele Identifier: CA130809

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53683155del , CM000667.2:g.53683155del	GRCh38
NC_000005.9:g.52978985del , CM000667.1:g.52978985del	GRCh37
NC_000005.8:g.53014742del	NCBI36
NG_008200.1:g.127521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.462del MANE Select	ENSP00000296684.5:p.Lys154AsnfsTer?
ENST00000296684.9:c.462del	ENSP00000296684.5:p.Lys154AsnfsTer?
ENST00000506765.1:c.376del	ENSP00000424570.1:n.376del
ENST00000506974.5:c.*238del	ENSP00000425967.1:n.*238del
ENST00000507026.5:c.*436del	ENSP00000424993.1:n.*436del
NM_002495.2:c.462del	NP_002486.1:p.Lys154AsnfsTer?
XM_005248525.3:c.*25del	XP_005248582.1:n.*25del
XM_011543415.1:c.288del	XP_011541717.1:p.Lys96AsnfsTer?
NM_001318051.1:c.*25del	NP_001304980.1:n.*25del
NM_002495.3:c.462del	NP_002486.1:p.Lys154AsnfsTer?
NR_134473.1:n.664del
NR_134474.1:n.581del
NR_134475.1:n.616del
NM_002495.4:c.462del MANE Select	NP_002486.1:p.Lys154AsnfsTer?
NM_001318051.2:c.*25del	NP_001304980.1:n.*25del
NR_134473.2:n.658del
NR_134474.2:n.575del
NR_134475.2:n.610del