Canonical Allele Identifier: CA645369123

Gene: NDUFS8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033243_68033246del , CM000673.2:g.68033243_68033246del	GRCh38
NC_000011.9:g.67800710_67800713del , CM000673.1:g.67800710_67800713del	GRCh37
NC_000011.8:g.67557286_67557289del	NCBI36
NG_017040.1:g.7627_7630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.332_335del MANE Select	ENSP00000315774.5:p.Cys111LeufsTer?
ENST00000313468.9:c.332_335del	ENSP00000315774.5:p.Cys111LeufsTer?
ENST00000432321.6:n.449_452del
ENST00000453471.6:c.332_335del	ENSP00000403972.2:p.Cys111LeufsTer?
ENST00000524810.5:c.103_106del
ENST00000525419.5:c.278_281del	ENSP00000433521.1:p.Cys93LeufsTer?
ENST00000526339.5:c.332_335del	ENSP00000436287.1:p.Cys111LeufsTer?
ENST00000526446.5:c.*387_*390del	ENSP00000433645.1:n.*387_*390del
ENST00000528492.1:c.-67+2510_-67+2513del	ENSP00000432848.1:n.-67+2510_-67+2513del
ENST00000529645.1:c.510_513del	ENSP00000431293.1:n.510_513del
ENST00000532399.1:n.1037_1040del
NM_002496.3:c.332_335del	NP_002487.1:p.Cys111LeufsTer?
XM_005274013.1:c.332_335del	XP_005274070.1:p.Cys111LeufsTer?
XM_005274014.1:c.332_335del	XP_005274071.1:p.Cys111LeufsTer?
XM_005274015.1:c.212_215del	XP_005274072.1:p.Cys71LeufsTer?
XM_011545053.1:c.332_335del	XP_011543355.1:p.Cys111LeufsTer?
NM_002496.4:c.332_335del MANE Select	NP_002487.1:p.Cys111LeufsTer?