Canonical Allele Identifier: CA1546620695
Gene: NDUFS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53560682_53560684delinsCAG , CM000667.2:g.53560682_53560684delinsCAG GRCh38
NC_000005.9:g.52856512_52856514delinsCAG , CM000667.1:g.52856512_52856514delinsCAG GRCh37
NC_000005.8:g.52892269_52892271delinsCAG NCBI36
NG_008200.1:g.5048_5050delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.20_22delinsCAG MANE Select ENSP00000296684.5:p.Ser7=
ENST00000296684.9:c.20_22delinsCAG ENSP00000296684.5:p.Ser7=
ENST00000502423.5:c.20_22delinsCAG ENSP00000422177.1:p.Ser7=
ENST00000506765.1:c.8_10delinsCAG ENSP00000424570.1:p.Ser3=
ENST00000506974.5:c.20_22delinsCAG ENSP00000425967.1:p.Ser7=
ENST00000507026.5:c.20_22delinsCAG ENSP00000424993.1:p.Ser7=
NM_002495.2:c.20_22delinsCAG NP_002486.1:p.Ser7=
XM_005248525.3:c.20_22delinsCAG XP_005248582.1:p.Ser7=
XM_011543414.1:c.20_22delinsCAG XP_011541716.1:p.Ser7=
NM_001318051.1:c.20_22delinsCAG NP_001304980.1:p.Ser7=
NM_002495.3:c.20_22delinsCAG NP_002486.1:p.Ser7=
NR_134473.1:n.50_52delinsCAG
NR_134474.1:n.50_52delinsCAG
NR_134475.1:n.50_52delinsCAG
XM_017009491.1:c.20_22delinsCAG XP_016864980.1:p.Ser7=
NM_002495.4:c.20_22delinsCAG MANE Select NP_002486.1:p.Ser7=
NM_001318051.2:c.20_22delinsCAG NP_001304980.1:p.Ser7=
NR_134473.2:n.44_46delinsCAG
NR_134474.2:n.44_46delinsCAG
NR_134475.2:n.44_46delinsCAG