Canonical Allele Identifier: CA2546666511

Gene: NDUFS8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033279_68033280insTA , CM000673.2:g.68033279_68033280insTA	GRCh38
NC_000011.9:g.67800746_67800747insTA , CM000673.1:g.67800746_67800747insTA	GRCh37
NC_000011.8:g.67557322_67557323insTA	NCBI36
NG_017040.1:g.7663_7664insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.368_369insTA MANE Select	ENSP00000315774.5:p.Gln124ThrfsTer25
ENST00000313468.9:c.368_369insTA	ENSP00000315774.5:p.Gln124ThrfsTer25
ENST00000432321.6:n.485_486insTA
ENST00000453471.6:c.368_369insTA	ENSP00000403972.2:p.Gln124ThrfsTer?
ENST00000524810.5:c.139_140insTA
ENST00000525419.5:c.314_315insTA	ENSP00000433521.1:p.Gln106ThrfsTer25
ENST00000526339.5:c.368_369insTA	ENSP00000436287.1:p.Gln124ThrfsTer25
ENST00000526446.5:c.*423_*424insTA	ENSP00000433645.1:n.*423_*424insTA
ENST00000528492.1:c.-67+2546_-67+2547insTA	ENSP00000432848.1:n.-67+2546_-67+2547insTA
ENST00000529645.1:c.546_547insTA	ENSP00000431293.1:n.546_547insTA
ENST00000532399.1:n.1073_1074insTA
NM_002496.3:c.368_369insTA	NP_002487.1:p.Gln124ThrfsTer25
XM_005274013.1:c.368_369insTA	XP_005274070.1:p.Gln124ThrfsTer25
XM_005274014.1:c.368_369insTA	XP_005274071.1:p.Gln124ThrfsTer25
XM_005274015.1:c.248_249insTA	XP_005274072.1:p.Gln84ThrfsTer25
XM_011545053.1:c.368_369insTA	XP_011543355.1:p.Gln124ThrfsTer25
NM_002496.4:c.368_369insTA MANE Select	NP_002487.1:p.Gln124ThrfsTer25