Canonical Allele Identifier: CA2975520840

Gene: NDUFS8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033278del , CM000673.2:g.68033278del	GRCh38
NC_000011.9:g.67800745del , CM000673.1:g.67800745del	GRCh37
NC_000011.8:g.67557321del	NCBI36
NG_017040.1:g.7662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.367del MANE Select	ENSP00000315774.5:p.Ala123ProfsTer25
ENST00000313468.9:c.367del	ENSP00000315774.5:p.Ala123ProfsTer25
ENST00000432321.6:n.484del
ENST00000453471.6:c.367del	ENSP00000403972.2:p.Ala123ProfsTer?
ENST00000524810.5:c.138del
ENST00000525419.5:c.313del	ENSP00000433521.1:p.Ala105ProfsTer25
ENST00000526339.5:c.367del	ENSP00000436287.1:p.Ala123ProfsTer25
ENST00000526446.5:c.*422del	ENSP00000433645.1:n.*422del
ENST00000528492.1:c.-67+2545del	ENSP00000432848.1:n.-67+2545del
ENST00000529645.1:c.545del	ENSP00000431293.1:n.545del
ENST00000532399.1:n.1072del
NM_002496.3:c.367del	NP_002487.1:p.Ala123ProfsTer25
XM_005274013.1:c.367del	XP_005274070.1:p.Ala123ProfsTer25
XM_005274014.1:c.367del	XP_005274071.1:p.Ala123ProfsTer25
XM_005274015.1:c.247del	XP_005274072.1:p.Ala83ProfsTer25
XM_011545053.1:c.367del	XP_011543355.1:p.Ala123ProfsTer25
NM_002496.4:c.367del MANE Select	NP_002487.1:p.Ala123ProfsTer25