Canonical Allele Identifier: CA2504381522

Gene: NDUFS8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036342_68036343del , CM000673.2:g.68036342_68036343del	GRCh38
NC_000011.9:g.67803809_67803810del , CM000673.1:g.67803809_67803810del	GRCh37
NC_000011.8:g.67560385_67560386del	NCBI36
NG_007878.1:g.2327_2328del , LRG_115:g.2327_2328del
NG_017040.1:g.10726_10727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.462_463del MANE Select	ENSP00000315774.5:p.Phe155LeufsTer17
ENST00000313468.9:c.462_463del	ENSP00000315774.5:p.Phe155LeufsTer17
ENST00000524810.5:c.394_395del
ENST00000525419.5:c.408_409del	ENSP00000433521.1:p.Phe137LeufsTer?
ENST00000526339.5:c.462_463del	ENSP00000436287.1:p.Phe155LeufsTer17
ENST00000526446.5:c.*517_*518del	ENSP00000433645.1:n.*517_*518del
ENST00000528492.1:c.24_25del	ENSP00000432848.1:p.Phe9LeufsTer17
ENST00000531282.1:n.314_315del
NM_002496.3:c.462_463del	NP_002487.1:p.Phe155LeufsTer17
XM_005274013.1:c.462_463del	XP_005274070.1:p.Phe155LeufsTer17
XM_005274014.1:c.462_463del	XP_005274071.1:p.Phe155LeufsTer17
XM_005274015.1:c.342_343del	XP_005274072.1:p.Phe115LeufsTer17
XM_011545053.1:c.462_463del	XP_011543355.1:p.Phe155LeufsTer17
NM_002496.4:c.462_463del MANE Select	NP_002487.1:p.Phe155LeufsTer17