Canonical Allele Identifier: CA2614692592

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68036479-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036480del , CM000673.2:g.68036480del	GRCh38
NC_000011.9:g.67803947del , CM000673.1:g.67803947del	GRCh37
NC_000011.8:g.67560523del	NCBI36
NG_007878.1:g.2465del , LRG_115:g.2465del
NG_017040.1:g.10864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.520del MANE Select	ENSP00000315774.5:p.Ser174ProfsTer?
ENST00000313468.9:c.520del	ENSP00000315774.5:p.Ser174ProfsTer?
ENST00000524810.5:c.452del
ENST00000526339.5:c.520del	ENSP00000436287.1:p.Ser174ProfsTer?
ENST00000526446.5:c.*575del	ENSP00000433645.1:n.*575del
ENST00000528492.1:c.82del	ENSP00000432848.1:p.Ser28ProfsTer?
ENST00000531282.1:n.372del
NM_002496.3:c.520del	NP_002487.1:p.Ser174ProfsTer?
XM_005274013.1:c.520del	XP_005274070.1:p.Ser174ProfsTer?
XM_005274014.1:c.520del	XP_005274071.1:p.Ser174ProfsTer?
XM_005274015.1:c.400del	XP_005274072.1:p.Ser134ProfsTer?
XM_011545053.1:c.520del	XP_011543355.1:p.Ser174ProfsTer?
NM_002496.4:c.520del MANE Select	NP_002487.1:p.Ser174ProfsTer?