Canonical Allele Identifier: CA2614692598

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68036483-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036483_68036484insTG , CM000673.2:g.68036483_68036484insTG	GRCh38
NC_000011.9:g.67803950_67803951insTG , CM000673.1:g.67803950_67803951insTG	GRCh37
NC_000011.8:g.67560526_67560527insTG	NCBI36
NG_007878.1:g.2468_2469insTG , LRG_115:g.2468_2469insTG
NG_017040.1:g.10867_10868insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.523_524insTG MANE Select	ENSP00000315774.5:p.Thr175MetfsTer?
ENST00000313468.9:c.523_524insTG	ENSP00000315774.5:p.Thr175MetfsTer?
ENST00000524810.5:c.455_456insTG
ENST00000526339.5:c.523_524insTG	ENSP00000436287.1:p.Thr175MetfsTer?
ENST00000526446.5:c.*578_*579insTG	ENSP00000433645.1:n.*578_*579insTG
ENST00000528492.1:c.85_86insTG	ENSP00000432848.1:p.Thr29MetfsTer?
ENST00000531282.1:n.375_376insTG
NM_002496.3:c.523_524insTG	NP_002487.1:p.Thr175MetfsTer?
XM_005274013.1:c.523_524insTG	XP_005274070.1:p.Thr175MetfsTer?
XM_005274014.1:c.523_524insTG	XP_005274071.1:p.Thr175MetfsTer?
XM_005274015.1:c.403_404insTG	XP_005274072.1:p.Thr135MetfsTer?
XM_011545053.1:c.523_524insTG	XP_011543355.1:p.Thr175MetfsTer?
NM_002496.4:c.523_524insTG MANE Select	NP_002487.1:p.Thr175MetfsTer?