Canonical Allele Identifier: CA559658095

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1198698009
• gnomAD v2: 5-52856530-CGTT-C
• gnomAD v3: 5-53560700-CGTT-C
• gnomAD v4: 5-53560700-CGTT-C
• MyVariant Identifiers: chr5:g.52856531_52856533del (hg19) ; chr5:g.53560701_53560703del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560703_53560705del , CM000667.2:g.53560703_53560705del	GRCh38
NC_000005.9:g.52856533_52856535del , CM000667.1:g.52856533_52856535del	GRCh37
NC_000005.8:g.52892290_52892292del	NCBI36
NG_008200.1:g.5069_5071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.41_43del MANE Select	ENSP00000296684.5:p.Leu14del
ENST00000296684.9:c.41_43del	ENSP00000296684.5:p.Leu14del
ENST00000502423.5:c.41_43del	ENSP00000422177.1:p.Leu14del
ENST00000506765.1:c.29_31del	ENSP00000424570.1:p.Leu10del
ENST00000506974.5:c.41_43del	ENSP00000425967.1:p.Leu14del
ENST00000507026.5:c.41_43del	ENSP00000424993.1:p.Leu14del
NM_002495.2:c.41_43del	NP_002486.1:p.Leu14del
XM_005248525.3:c.41_43del	XP_005248582.1:p.Leu14del
XM_011543414.1:c.41_43del	XP_011541716.1:p.Leu14del
NM_001318051.1:c.41_43del	NP_001304980.1:p.Leu14del
NM_002495.3:c.41_43del	NP_002486.1:p.Leu14del
NR_134473.1:n.71_73del
NR_134474.1:n.71_73del
NR_134475.1:n.71_73del
XM_017009491.1:c.41_43del	XP_016864980.1:p.Leu14del
NM_002495.4:c.41_43del MANE Select	NP_002486.1:p.Leu14del
NM_001318051.2:c.41_43del	NP_001304980.1:p.Leu14del
NR_134473.2:n.65_67del
NR_134474.2:n.65_67del
NR_134475.2:n.65_67del