Canonical Allele Identifier: CA3264151

Gene: NDUFS4

Linked Data

• dbSNP Id: rs776961586
• ExAC: 5:52856595 TA / T
• gnomAD v2: 5-52856595-TA-T
• gnomAD v4: 5-53560765-TA-T
• MyVariant Identifiers: chr5:g.52856596del (hg19) ; chr5:g.53560766del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560766del , CM000667.2:g.53560766del	GRCh38
NC_000005.9:g.52856596del , CM000667.1:g.52856596del	GRCh37
NC_000005.8:g.52892353del	NCBI36
NG_008200.1:g.5132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.98+6del MANE Select	ENSP00000296684.5:n.98+6del
ENST00000296684.9:c.98+6del	ENSP00000296684.5:n.98+6del
ENST00000502423.5:c.98+6del	ENSP00000422177.1:n.98+6del
ENST00000506765.1:c.86+6del	ENSP00000424570.1:n.86+6del
ENST00000506974.5:c.98+6del	ENSP00000425967.1:n.98+6del
ENST00000507026.5:c.98+6del	ENSP00000424993.1:n.98+6del
NM_002495.2:c.98+6del	NP_002486.1:n.98+6del
XM_005248525.3:c.98+6del	XP_005248582.1:n.98+6del
XM_011543414.1:c.98+6del	XP_011541716.1:n.98+6del
NM_001318051.1:c.98+6del	NP_001304980.1:n.98+6del
NM_002495.3:c.98+6del	NP_002486.1:n.98+6del
NR_134473.1:n.128+6del
NR_134474.1:n.128+6del
NR_134475.1:n.128+6del
XM_017009491.1:c.98+6del	XP_016864980.1:n.98+6del
NM_002495.4:c.98+6del MANE Select	NP_002486.1:n.98+6del
NM_001318051.2:c.98+6del	NP_001304980.1:n.98+6del
NR_134473.2:n.122+6del
NR_134474.2:n.122+6del
NR_134475.2:n.122+6del