Canonical Allele Identifier: CA2531200648

Gene: NDUFS8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036346_68036347dup , CM000673.2:g.68036346_68036347dup	GRCh38
NC_000011.9:g.67803813_67803814dup , CM000673.1:g.67803813_67803814dup	GRCh37
NC_000011.8:g.67560389_67560390dup	NCBI36
NG_007878.1:g.2331_2332dup , LRG_115:g.2331_2332dup
NG_017040.1:g.10730_10731dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.466_467dup MANE Select	ENSP00000315774.5:p.Gln157AlafsTer?
ENST00000313468.9:c.466_467dup	ENSP00000315774.5:p.Gln157AlafsTer?
ENST00000524810.5:c.398_399dup
ENST00000525419.5:c.412_413dup	ENSP00000433521.1:p.Cys138=
ENST00000526339.5:c.466_467dup	ENSP00000436287.1:p.Gln157AlafsTer?
ENST00000526446.5:c.*521_*522dup	ENSP00000433645.1:n.*521_*522dup
ENST00000528492.1:c.28_29dup	ENSP00000432848.1:p.Gln11AlafsTer?
ENST00000531282.1:n.318_319dup
NM_002496.3:c.466_467dup	NP_002487.1:p.Gln157AlafsTer?
XM_005274013.1:c.466_467dup	XP_005274070.1:p.Gln157AlafsTer?
XM_005274014.1:c.466_467dup	XP_005274071.1:p.Gln157AlafsTer?
XM_005274015.1:c.346_347dup	XP_005274072.1:p.Gln117AlafsTer?
XM_011545053.1:c.466_467dup	XP_011543355.1:p.Gln157AlafsTer?
NM_002496.4:c.466_467dup MANE Select	NP_002487.1:p.Gln157AlafsTer?