Canonical Allele Identifier: CA2577222173

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144992del , CM000664.2:g.206144992del	GRCh38
NC_000002.11:g.207009716del , CM000664.1:g.207009716del	GRCh37
NC_000002.10:g.206717961del	NCBI36
NG_009248.1:g.19473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.773del MANE Select	ENSP00000233190.5:p.Gly258GlufsTer13
ENST00000233190.10:c.773del	ENSP00000233190.5:p.Gly258GlufsTer13
ENST00000423725.5:c.602del	ENSP00000397760.1:p.Gly201GlufsTer13
ENST00000432169.5:c.440del	ENSP00000409689.1:p.Gly147GlufsTer13
ENST00000440274.5:c.665del	ENSP00000409766.1:p.Gly222GlufsTer13
ENST00000449699.5:c.773del	ENSP00000399912.1:p.Gly258GlufsTer13
ENST00000455934.6:c.815del	ENSP00000392709.2:p.Gly272GlufsTer13
ENST00000457011.5:c.425del	ENSP00000400976.1:p.Gly142GlufsTer13
NM_001199981.1:c.665del	NP_001186910.1:p.Gly222GlufsTer13
NM_001199982.1:c.440del	NP_001186911.1:p.Gly147GlufsTer13
NM_001199983.1:c.602del	NP_001186912.1:p.Gly201GlufsTer13
NM_001199984.1:c.815del	NP_001186913.1:p.Gly272GlufsTer13
NM_005006.6:c.773del	NP_004997.4:p.Gly258GlufsTer13
XM_017004188.2:c.14del	XP_016859677.1:p.Gly5GlufsTer13
NM_001199981.2:c.665del	NP_001186910.1:p.Gly222GlufsTer13
NM_001199982.2:c.440del	NP_001186911.1:p.Gly147GlufsTer13
NM_001199983.2:c.602del	NP_001186912.1:p.Gly201GlufsTer13
NM_005006.7:c.773del MANE Select	NP_004997.4:p.Gly258GlufsTer13
NM_001199984.2:c.815del	NP_001186913.1:p.Gly272GlufsTer13