Canonical Allele Identifier: CA599928519

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1404077200
• gnomAD v2: 11-67800800-AG-A
• gnomAD v4: 11-68033333-AG-A
• MyVariant Identifiers: chr11:g.67800801del (hg19) ; chr11:g.68033334del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033336del , CM000673.2:g.68033336del	GRCh38
NC_000011.9:g.67800803del , CM000673.1:g.67800803del	GRCh37
NC_000011.8:g.67557379del	NCBI36
NG_017040.1:g.7720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.372+53del MANE Select	ENSP00000315774.5:n.372+53del
ENST00000313468.9:c.372+53del	ENSP00000315774.5:n.372+53del
ENST00000432321.6:n.542del
ENST00000524810.5:c.143+53del
ENST00000525419.5:c.318+53del	ENSP00000433521.1:n.318+53del
ENST00000526339.5:c.372+53del	ENSP00000436287.1:n.372+53del
ENST00000526446.5:c.*427+53del	ENSP00000433645.1:n.*427+53del
ENST00000528492.1:c.-67+2603del	ENSP00000432848.1:n.-67+2603del
ENST00000529645.1:c.550+53del	ENSP00000431293.1:n.550+53del
ENST00000532399.1:n.1130del
NM_002496.3:c.372+53del	NP_002487.1:n.372+53del
XM_005274013.1:c.372+53del	XP_005274070.1:n.372+53del
XM_005274014.1:c.372+53del	XP_005274071.1:n.372+53del
XM_005274015.1:c.252+53del	XP_005274072.1:n.252+53del
XM_011545053.1:c.372+53del	XP_011543355.1:n.372+53del
NM_002496.4:c.372+53del MANE Select	NP_002487.1:n.372+53del