Canonical Allele Identifier: CA6146565

Gene: NDUFS8

Linked Data

• dbSNP Id: rs752650731
• ExAC: 11:67803980 AAGG / A
• gnomAD v2: 11-67803980-AAGG-A
• gnomAD v4: 11-68036513-AAGG-A
• MyVariant Identifiers: chr11:g.67803981_67803983del (hg19) ; chr11:g.68036515_68036517del (hg38) ; chr11:g.68036514_68036516del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036516_68036518del , CM000673.2:g.68036516_68036518del	GRCh38
NC_000011.9:g.67803983_67803985del , CM000673.1:g.67803983_67803985del	GRCh37
NC_000011.8:g.67560559_67560561del	NCBI36
NG_007878.1:g.2501_2503del , LRG_115:g.2501_2503del
NG_017040.1:g.10900_10902del

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.556_558del MANE Select	ENSP00000315774.5:p.Glu186del
ENST00000313468.9:c.556_558del	ENSP00000315774.5:p.Glu186del
ENST00000524810.5:c.488_490del
ENST00000526446.5:c.*611_*613del	ENSP00000433645.1:n.*611_*613del
ENST00000528492.1:c.118_120del	ENSP00000432848.1:p.Glu40del
ENST00000531282.1:n.408_410del
NM_002496.3:c.556_558del	NP_002487.1:p.Glu186del
XM_005274013.1:c.556_558del	XP_005274070.1:p.Glu186del
XM_005274014.1:c.556_558del	XP_005274071.1:p.Glu186del
XM_005274015.1:c.436_438del	XP_005274072.1:p.Glu146del
XM_011545053.1:c.556_558del	XP_011543355.1:p.Glu186del
NM_002496.4:c.556_558del MANE Select	NP_002487.1:p.Glu186del