Canonical Allele Identifier: CA2673829210

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646248-ACTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646249_53646251del , CM000667.2:g.53646249_53646251del	GRCh38
NC_000005.9:g.52942079_52942081del , CM000667.1:g.52942079_52942081del	GRCh37
NC_000005.8:g.52977836_52977838del	NCBI36
NG_008200.1:g.90615_90617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.194_196del MANE Select	ENSP00000296684.5:p.Thr65_Gly66delinsArg
ENST00000296684.9:c.194_196del	ENSP00000296684.5:p.Thr65_Gly66delinsArg
ENST00000502423.5:c.*61_*63del	ENSP00000422177.1:n.*61_*63del
ENST00000506765.1:c.182_184del	ENSP00000424570.1:p.Thr61_Gly62delinsArg
ENST00000506974.5:c.366_368del	ENSP00000425967.1:p.Asn122_Trp123delinsLys
ENST00000507026.5:c.*168_*170del	ENSP00000424993.1:n.*168_*170del
ENST00000509443.1:n.55_57del
NM_002495.2:c.194_196del	NP_002486.1:p.Thr65_Gly66delinsArg
XM_005248525.3:c.194_196del	XP_005248582.1:p.Thr65_Gly66delinsArg
XM_011543415.1:c.20_22del	XP_011541717.1:p.Thr7_Gly8delinsArg
NM_001318051.1:c.194_196del	NP_001304980.1:p.Thr65_Gly66delinsArg
NM_002495.3:c.194_196del	NP_002486.1:p.Thr65_Gly66delinsArg
NR_134473.1:n.396_398del
NR_134474.1:n.313_315del
NR_134475.1:n.348_350del
NM_002495.4:c.194_196del MANE Select	NP_002486.1:p.Thr65_Gly66delinsArg
NM_001318051.2:c.194_196del	NP_001304980.1:p.Thr65_Gly66delinsArg
NR_134473.2:n.390_392del
NR_134474.2:n.307_309del
NR_134475.2:n.342_344del