Canonical Allele Identifier: CA6146564

Gene: NDUFS8

Linked Data

• dbSNP Id: rs765351209
• ExAC: 11:67803978 AC / A
• gnomAD v2: 11-67803978-AC-A
• gnomAD v4: 11-68036511-AC-A
• MyVariant Identifiers: chr11:g.67803979del (hg19) ; chr11:g.68036512del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036512del , CM000673.2:g.68036512del	GRCh38
NC_000011.9:g.67803979del , CM000673.1:g.67803979del	GRCh37
NC_000011.8:g.67560555del	NCBI36
NG_007878.1:g.2497del , LRG_115:g.2497del
NG_017040.1:g.10896del

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.552del MANE Select	ENSP00000315774.5:p.Asn184LysfsTer?
ENST00000313468.9:c.552del	ENSP00000315774.5:p.Asn184LysfsTer?
ENST00000524810.5:c.484del
ENST00000526339.5:c.552del	ENSP00000436287.1:p.Asn184LysfsTer?
ENST00000526446.5:c.*607del	ENSP00000433645.1:n.*607del
ENST00000528492.1:c.114del	ENSP00000432848.1:p.Asn38LysfsTer?
ENST00000531282.1:n.404del
NM_002496.3:c.552del	NP_002487.1:p.Asn184LysfsTer?
XM_005274013.1:c.552del	XP_005274070.1:p.Asn184LysfsTer?
XM_005274014.1:c.552del	XP_005274071.1:p.Asn184LysfsTer?
XM_005274015.1:c.432del	XP_005274072.1:p.Asn144LysfsTer?
XM_011545053.1:c.552del	XP_011543355.1:p.Asn184LysfsTer?
NM_002496.4:c.552del MANE Select	NP_002487.1:p.Asn184LysfsTer?