Canonical Allele Identifier: CA2614692982

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68036556-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036557del , CM000673.2:g.68036557del	GRCh38
NC_000011.9:g.67804024del , CM000673.1:g.67804024del	GRCh37
NC_000011.8:g.67560600del	NCBI36
NG_007878.1:g.2542del , LRG_115:g.2542del
NG_017040.1:g.10941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.597del MANE Select	ENSP00000315774.5:p.Ile199MetfsTer?
ENST00000313468.9:c.597del	ENSP00000315774.5:p.Ile199MetfsTer?
ENST00000524810.5:c.529del
ENST00000528492.1:c.159del	ENSP00000432848.1:p.Ile53MetfsTer?
ENST00000531282.1:n.449del
NM_002496.3:c.597del	NP_002487.1:p.Ile199MetfsTer?
XM_005274013.1:c.597del	XP_005274070.1:p.Ile199MetfsTer?
XM_005274014.1:c.597del	XP_005274071.1:p.Ile199MetfsTer?
XM_005274015.1:c.477del	XP_005274072.1:p.Ile159MetfsTer?
XM_011545053.1:c.597del	XP_011543355.1:p.Ile199MetfsTer?
NM_002496.4:c.597del MANE Select	NP_002487.1:p.Ile199MetfsTer?