Canonical Allele Identifier: CA600238273

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1565146136
• gnomAD v2: 11-67800615-GGCCACCATC-G
• gnomAD v4: 11-68033148-GGCCACCATC-G
• MyVariant Identifiers: chr11:g.67800616_67800624del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033149_68033157del , CM000673.2:g.68033149_68033157del	GRCh38
NC_000011.9:g.67800616_67800624del , CM000673.1:g.67800616_67800624del	GRCh37
NC_000011.8:g.67557192_67557200del	NCBI36
NG_017040.1:g.7533_7541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.238_246del MANE Select	ENSP00000315774.5:p.Ala80_Ile82del
ENST00000313468.9:c.238_246del	ENSP00000315774.5:p.Ala80_Ile82del
ENST00000432321.6:n.355_363del
ENST00000453471.6:c.238_246del	ENSP00000403972.2:p.Ala80_Ile82del
ENST00000524810.5:c.9_17del
ENST00000525419.5:c.184_192del	ENSP00000433521.1:p.Ala62_Ile64del
ENST00000525628.1:c.238_246del	ENSP00000432968.1:p.Ala80_Ile82del
ENST00000526339.5:c.238_246del	ENSP00000436287.1:p.Ala80_Ile82del
ENST00000526446.5:c.*293_*301del	ENSP00000433645.1:n.*293_*301del
ENST00000528492.1:c.-67+2416_-67+2424del	ENSP00000432848.1:n.-67+2416_-67+2424del
ENST00000529645.1:c.416_424del	ENSP00000431293.1:n.416_424del
ENST00000531228.1:c.*80_*88del	ENSP00000433054.1:n.*80_*88del
ENST00000532399.1:n.943_951del
NM_002496.3:c.238_246del	NP_002487.1:p.Ala80_Ile82del
XM_005274013.1:c.238_246del	XP_005274070.1:p.Ala80_Ile82del
XM_005274014.1:c.238_246del	XP_005274071.1:p.Ala80_Ile82del
XM_005274015.1:c.118_126del	XP_005274072.1:p.Ala40_Ile42del
XM_011545053.1:c.238_246del	XP_011543355.1:p.Ala80_Ile82del
NM_002496.4:c.238_246del MANE Select	NP_002487.1:p.Ala80_Ile82del