Canonical Allele Identifier: CA6146513

Gene: NDUFS8

Linked Data

• dbSNP Id: rs776885484
• ExAC: 11:67803727 CCAT / C
• gnomAD v2: 11-67803727-CCAT-C
• MyVariant Identifiers: chr11:g.67803728_67803730del (hg19) ; chr11:g.68036261_68036263del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036262_68036264del , CM000673.2:g.68036262_68036264del	GRCh38
NC_000011.9:g.67803729_67803731del , CM000673.1:g.67803729_67803731del	GRCh37
NC_000011.8:g.67560305_67560307del	NCBI36
NG_007878.1:g.2247_2249del , LRG_115:g.2247_2249del
NG_017040.1:g.10646_10648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.382_384del MANE Select	ENSP00000315774.5:p.Ile128del
ENST00000313468.9:c.382_384del	ENSP00000315774.5:p.Ile128del
ENST00000524810.5:c.314_316del
ENST00000525419.5:c.328_330del	ENSP00000433521.1:p.Ile110del
ENST00000526339.5:c.382_384del	ENSP00000436287.1:p.Ile128del
ENST00000526446.5:c.*437_*439del	ENSP00000433645.1:n.*437_*439del
ENST00000526542.1:n.333_335del
ENST00000528492.1:c.-57_-55del	ENSP00000432848.1:n.-57_-55del
ENST00000531282.1:n.234_236del
NM_002496.3:c.382_384del	NP_002487.1:p.Ile128del
XM_005274013.1:c.382_384del	XP_005274070.1:p.Ile128del
XM_005274014.1:c.382_384del	XP_005274071.1:p.Ile128del
XM_005274015.1:c.262_264del	XP_005274072.1:p.Ile88del
XM_011545053.1:c.382_384del	XP_011543355.1:p.Ile128del
NM_002496.4:c.382_384del MANE Select	NP_002487.1:p.Ile128del