Canonical Allele Identifier: CA2577222169

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144899del , CM000664.2:g.206144899del	GRCh38
NC_000002.11:g.207009623del , CM000664.1:g.207009623del	GRCh37
NC_000002.10:g.206717868del	NCBI36
NG_009248.1:g.19568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.868del MANE Select	ENSP00000233190.5:p.Thr290ProfsTer8
ENST00000233190.10:c.868del	ENSP00000233190.5:p.Thr290ProfsTer8
ENST00000423725.5:c.697del	ENSP00000397760.1:p.Thr233ProfsTer8
ENST00000432169.5:c.535del	ENSP00000409689.1:p.Thr179ProfsTer8
ENST00000440274.5:c.760del	ENSP00000409766.1:p.Thr254ProfsTer8
ENST00000449699.5:c.868del	ENSP00000399912.1:p.Thr290ProfsTer8
ENST00000455934.6:c.910del	ENSP00000392709.2:p.Thr304ProfsTer8
ENST00000457011.5:c.520del	ENSP00000400976.1:p.Thr174ProfsTer8
NM_001199981.1:c.760del	NP_001186910.1:p.Thr254ProfsTer8
NM_001199982.1:c.535del	NP_001186911.1:p.Thr179ProfsTer8
NM_001199983.1:c.697del	NP_001186912.1:p.Thr233ProfsTer8
NM_001199984.1:c.910del	NP_001186913.1:p.Thr304ProfsTer8
NM_005006.6:c.868del	NP_004997.4:p.Thr290ProfsTer8
XM_017004188.2:c.109del	XP_016859677.1:p.Thr37ProfsTer8
NM_001199981.2:c.760del	NP_001186910.1:p.Thr254ProfsTer8
NM_001199982.2:c.535del	NP_001186911.1:p.Thr179ProfsTer8
NM_001199983.2:c.697del	NP_001186912.1:p.Thr233ProfsTer8
NM_005006.7:c.868del MANE Select	NP_004997.4:p.Thr290ProfsTer8
NM_001199984.2:c.910del	NP_001186913.1:p.Thr304ProfsTer8