Canonical Allele Identifier: CA2614684521

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68033273-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033277del , CM000673.2:g.68033277del	GRCh38
NC_000011.9:g.67800744del , CM000673.1:g.67800744del	GRCh37
NC_000011.8:g.67557320del	NCBI36
NG_017040.1:g.7661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.366del MANE Select	ENSP00000315774.5:p.Ala123ProfsTer25
ENST00000313468.9:c.366del	ENSP00000315774.5:p.Ala123ProfsTer25
ENST00000432321.6:n.483del
ENST00000453471.6:c.366del	ENSP00000403972.2:p.Ala123ProfsTer?
ENST00000524810.5:c.137del
ENST00000525419.5:c.312del	ENSP00000433521.1:p.Ala105ProfsTer25
ENST00000526339.5:c.366del	ENSP00000436287.1:p.Ala123ProfsTer25
ENST00000526446.5:c.*421del	ENSP00000433645.1:n.*421del
ENST00000528492.1:c.-67+2544del	ENSP00000432848.1:n.-67+2544del
ENST00000529645.1:c.544del	ENSP00000431293.1:n.544del
ENST00000532399.1:n.1071del
NM_002496.3:c.366del	NP_002487.1:p.Ala123ProfsTer25
XM_005274013.1:c.366del	XP_005274070.1:p.Ala123ProfsTer25
XM_005274014.1:c.366del	XP_005274071.1:p.Ala123ProfsTer25
XM_005274015.1:c.246del	XP_005274072.1:p.Ala83ProfsTer25
XM_011545053.1:c.366del	XP_011543355.1:p.Ala123ProfsTer25
NM_002496.4:c.366del MANE Select	NP_002487.1:p.Ala123ProfsTer25