Canonical Allele Identifier: CA2662803886

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206144946-ATCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144949_206144951del , CM000664.2:g.206144949_206144951del	GRCh38
NC_000002.11:g.207009673_207009675del , CM000664.1:g.207009673_207009675del	GRCh37
NC_000002.10:g.206717918_206717920del	NCBI36
NG_009248.1:g.19515_19517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.815_817del MANE Select	ENSP00000233190.5:p.Arg272del
ENST00000233190.10:c.815_817del	ENSP00000233190.5:p.Arg272del
ENST00000423725.5:c.644_646del	ENSP00000397760.1:p.Arg215del
ENST00000432169.5:c.482_484del	ENSP00000409689.1:p.Arg161del
ENST00000440274.5:c.707_709del	ENSP00000409766.1:p.Arg236del
ENST00000449699.5:c.815_817del	ENSP00000399912.1:p.Arg272del
ENST00000455934.6:c.857_859del	ENSP00000392709.2:p.Arg286del
ENST00000457011.5:c.467_469del	ENSP00000400976.1:p.Arg156del
NM_001199981.1:c.707_709del	NP_001186910.1:p.Arg236del
NM_001199982.1:c.482_484del	NP_001186911.1:p.Arg161del
NM_001199983.1:c.644_646del	NP_001186912.1:p.Arg215del
NM_001199984.1:c.857_859del	NP_001186913.1:p.Arg286del
NM_005006.6:c.815_817del	NP_004997.4:p.Arg272del
XM_017004188.2:c.56_58del	XP_016859677.1:p.Arg19del
NM_001199981.2:c.707_709del	NP_001186910.1:p.Arg236del
NM_001199982.2:c.482_484del	NP_001186911.1:p.Arg161del
NM_001199983.2:c.644_646del	NP_001186912.1:p.Arg215del
NM_005006.7:c.815_817del MANE Select	NP_004997.4:p.Arg272del
NM_001199984.2:c.857_859del	NP_001186913.1:p.Arg286del