Canonical Allele Identifier: CA2662803880

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206144895-G-GT

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.868dup MANE Select	ENSP00000233190.5:p.Thr290AsnfsTer6
ENST00000233190.10:c.868dup	ENSP00000233190.5:p.Thr290AsnfsTer6
ENST00000423725.5:c.697dup	ENSP00000397760.1:p.Thr233AsnfsTer6
ENST00000432169.5:c.535dup	ENSP00000409689.1:p.Thr179AsnfsTer6
ENST00000440274.5:c.760dup	ENSP00000409766.1:p.Thr254AsnfsTer6
ENST00000449699.5:c.868dup	ENSP00000399912.1:p.Thr290AsnfsTer6
ENST00000455934.6:c.910dup	ENSP00000392709.2:p.Thr304AsnfsTer6
ENST00000457011.5:c.520dup	ENSP00000400976.1:p.Thr174AsnfsTer6
NM_001199981.1:c.760dup	NP_001186910.1:p.Thr254AsnfsTer6
NM_001199982.1:c.535dup	NP_001186911.1:p.Thr179AsnfsTer6
NM_001199983.1:c.697dup	NP_001186912.1:p.Thr233AsnfsTer6
NM_001199984.1:c.910dup	NP_001186913.1:p.Thr304AsnfsTer6
NM_005006.6:c.868dup	NP_004997.4:p.Thr290AsnfsTer6
XM_017004188.2:c.109dup	XP_016859677.1:p.Thr37AsnfsTer6
NM_001199981.2:c.760dup	NP_001186910.1:p.Thr254AsnfsTer6
NM_001199982.2:c.535dup	NP_001186911.1:p.Thr179AsnfsTer6
NM_001199983.2:c.697dup	NP_001186912.1:p.Thr233AsnfsTer6
NM_005006.7:c.868dup MANE Select	NP_004997.4:p.Thr290AsnfsTer6
NM_001199984.2:c.910dup	NP_001186913.1:p.Thr304AsnfsTer6