Canonical Allele Identifier: CA501107

Gene: NDUFS8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68032933del , CM000673.2:g.68032933del	GRCh38
NC_000011.9:g.67800400del , CM000673.1:g.67800400del	GRCh37
NC_000011.8:g.67556976del	NCBI36
NG_017040.1:g.7317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.120del MANE Select	ENSP00000315774.5:p.Asn40LysfsTer9
ENST00000313468.9:c.120del	ENSP00000315774.5:p.Asn40LysfsTer9
ENST00000432321.6:n.237del
ENST00000453471.6:c.120del	ENSP00000403972.2:p.Asn40LysfsTer9
ENST00000525419.5:c.66del	ENSP00000433521.1:p.Asn22LysfsTer9
ENST00000525628.1:c.120del	ENSP00000432968.1:p.Asn40LysfsTer9
ENST00000526339.5:c.120del	ENSP00000436287.1:p.Asn40LysfsTer9
ENST00000526446.5:c.*175del	ENSP00000433645.1:n.*175del
ENST00000528492.1:c.-67+2200del	ENSP00000432848.1:n.-67+2200del
ENST00000529645.1:c.298del	ENSP00000431293.1:n.298del
ENST00000531228.1:c.175del	ENSP00000433054.1:p.His59MetfsTer?
ENST00000532399.1:n.727del
NM_002496.3:c.120del	NP_002487.1:p.Asn40LysfsTer9
XM_005274013.1:c.120del	XP_005274070.1:p.Asn40LysfsTer9
XM_005274014.1:c.120del	XP_005274071.1:p.Asn40LysfsTer9
XM_005274015.1:c.-1del	XP_005274072.1:n.-1del
XM_011545053.1:c.120del	XP_011543355.1:p.Asn40LysfsTer9
NM_002496.4:c.120del MANE Select	NP_002487.1:p.Asn40LysfsTer9