Canonical Allele Identifier: CA1980452351

Gene: NDUFS8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036507_68036510delinsTACA , CM000673.2:g.68036507_68036510delinsTACA	GRCh38
NC_000011.9:g.67803974_67803977delinsTACA , CM000673.1:g.67803974_67803977delinsTACA	GRCh37
NC_000011.8:g.67560550_67560553delinsTACA	NCBI36
NG_007878.1:g.2492_2495delinsTACA , LRG_115:g.2492_2495delinsTACA
NG_017040.1:g.10891_10894delinsTACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.547_550delinsTACA MANE Select	ENSP00000315774.5:p.Tyr183=
ENST00000313468.9:c.547_550delinsTACA	ENSP00000315774.5:p.Tyr183=
ENST00000524810.5:c.479_482delinsTACA
ENST00000526339.5:c.547_550delinsTACA	ENSP00000436287.1:p.Tyr183=
ENST00000526446.5:c.*602_*605delinsTACA	ENSP00000433645.1:n.*602_*605delinsTACA
ENST00000528492.1:c.109_112delinsTACA	ENSP00000432848.1:p.Tyr37=
ENST00000531282.1:n.399_402delinsTACA
NM_002496.3:c.547_550delinsTACA	NP_002487.1:p.Tyr183=
XM_005274013.1:c.547_550delinsTACA	XP_005274070.1:p.Tyr183=
XM_005274014.1:c.547_550delinsTACA	XP_005274071.1:p.Tyr183=
XM_005274015.1:c.427_430delinsTACA	XP_005274072.1:p.Tyr143=
XM_011545053.1:c.547_550delinsTACA	XP_011543355.1:p.Tyr183=
NM_002496.4:c.547_550delinsTACA MANE Select	NP_002487.1:p.Tyr183=