Canonical Allele Identifier: CA2792527946
Gene: NDUFS8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68036366_68036367insC , CM000673.2:g.68036366_68036367insC GRCh38
NC_000011.9:g.67803833_67803834insC , CM000673.1:g.67803833_67803834insC GRCh37
NC_000011.8:g.67560409_67560410insC NCBI36
NG_007878.1:g.2351_2352insC , LRG_115:g.2351_2352insC
NG_017040.1:g.10750_10751insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.486_487insC MANE Select ENSP00000315774.5:p.Asp163ArgfsTer10
ENST00000313468.9:c.486_487insC ENSP00000315774.5:p.Asp163ArgfsTer10
ENST00000524810.5:c.418_419insC
ENST00000526339.5:c.486_487insC ENSP00000436287.1:p.Asp163ArgfsTer10
ENST00000526446.5:c.*541_*542insC ENSP00000433645.1:n.*541_*542insC
ENST00000528492.1:c.48_49insC ENSP00000432848.1:p.Asp17ArgfsTer10
ENST00000531282.1:n.338_339insC
NM_002496.3:c.486_487insC NP_002487.1:p.Asp163ArgfsTer10
XM_005274013.1:c.486_487insC XP_005274070.1:p.Asp163ArgfsTer10
XM_005274014.1:c.486_487insC XP_005274071.1:p.Asp163ArgfsTer10
XM_005274015.1:c.366_367insC XP_005274072.1:p.Asp123ArgfsTer10
XM_011545053.1:c.486_487insC XP_011543355.1:p.Asp163ArgfsTer10
NM_002496.4:c.486_487insC MANE Select NP_002487.1:p.Asp163ArgfsTer10