Canonical Allele Identifier: CA2695197008

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 2630234
• ClinVar RCV Id: RCV003402201

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127910_206127911dup , CM000664.2:g.206127910_206127911dup	GRCh38
NC_000002.11:g.206992634_206992635dup , CM000664.1:g.206992634_206992635dup	GRCh37
NC_000002.10:g.206700879_206700880dup	NCBI36
NG_009248.1:g.36556_36557dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1773_1774dup MANE Select	ENSP00000233190.5:p.Lys592ArgfsTer18
ENST00000233190.10:c.1773_1774dup	ENSP00000233190.5:p.Lys592ArgfsTer18
ENST00000423725.5:c.1602_1603dup	ENSP00000397760.1:p.Lys535ArgfsTer18
ENST00000432169.5:c.1440_1441dup	ENSP00000409689.1:p.Lys481ArgfsTer18
ENST00000440274.5:c.1665_1666dup	ENSP00000409766.1:p.Lys556ArgfsTer18
ENST00000449699.5:c.1773_1774dup	ENSP00000399912.1:p.Lys592ArgfsTer18
ENST00000455934.6:c.1815_1816dup	ENSP00000392709.2:p.Lys606ArgfsTer18
ENST00000457011.5:c.1425_1426dup	ENSP00000400976.1:p.Lys476ArgfsTer18
ENST00000498520.1:n.245_246dup
NM_001199981.1:c.1665_1666dup	NP_001186910.1:p.Lys556ArgfsTer18
NM_001199982.1:c.1440_1441dup	NP_001186911.1:p.Lys481ArgfsTer18
NM_001199983.1:c.1602_1603dup	NP_001186912.1:p.Lys535ArgfsTer18
NM_001199984.1:c.1815_1816dup	NP_001186913.1:p.Lys606ArgfsTer18
NM_005006.6:c.1773_1774dup	NP_004997.4:p.Lys592ArgfsTer18
XM_017004188.2:c.1014_1015dup	XP_016859677.1:p.Lys339ArgfsTer18
NM_001199981.2:c.1665_1666dup	NP_001186910.1:p.Lys556ArgfsTer18
NM_001199982.2:c.1440_1441dup	NP_001186911.1:p.Lys481ArgfsTer18
NM_001199983.2:c.1602_1603dup	NP_001186912.1:p.Lys535ArgfsTer18
NM_005006.7:c.1773_1774dup MANE Select	NP_004997.4:p.Lys592ArgfsTer18
NM_001199984.2:c.1815_1816dup	NP_001186913.1:p.Lys606ArgfsTer18