Canonical Allele Identifier: CA2753997196
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145090_206145091insACA , CM000664.2:g.206145090_206145091insACA GRCh38
NC_000002.11:g.207009814_207009815insACA , CM000664.1:g.207009814_207009815insACA GRCh37
NC_000002.10:g.206718059_206718060insACA NCBI36
NG_009248.1:g.19373_19374insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.738-65_738-64insTGT MANE Select ENSP00000233190.5:n.738-65_738-64insTGT
ENST00000233190.10:c.738-65_738-64insTGT ENSP00000233190.5:n.738-65_738-64insTGT
ENST00000423725.5:c.567-65_567-64insTGT ENSP00000397760.1:n.567-65_567-64insTGT
ENST00000432169.5:c.405-65_405-64insTGT ENSP00000409689.1:n.405-65_405-64insTGT
ENST00000440274.5:c.630-65_630-64insTGT ENSP00000409766.1:n.630-65_630-64insTGT
ENST00000449699.5:c.738-65_738-64insTGT ENSP00000399912.1:n.738-65_738-64insTGT
ENST00000455934.6:c.780-65_780-64insTGT ENSP00000392709.2:n.780-65_780-64insTGT
ENST00000457011.5:c.390-65_390-64insTGT ENSP00000400976.1:n.390-65_390-64insTGT
NM_001199981.1:c.630-65_630-64insTGT NP_001186910.1:n.630-65_630-64insTGT
NM_001199982.1:c.405-65_405-64insTGT NP_001186911.1:n.405-65_405-64insTGT
NM_001199983.1:c.567-65_567-64insTGT NP_001186912.1:n.567-65_567-64insTGT
NM_001199984.1:c.780-65_780-64insTGT NP_001186913.1:n.780-65_780-64insTGT
NM_005006.6:c.738-65_738-64insTGT NP_004997.4:n.738-65_738-64insTGT
XM_017004188.2:c.-53-34_-53-33insTGT XP_016859677.1:n.-53-34_-53-33insTGT
NM_001199981.2:c.630-65_630-64insTGT NP_001186910.1:n.630-65_630-64insTGT
NM_001199982.2:c.405-65_405-64insTGT NP_001186911.1:n.405-65_405-64insTGT
NM_001199983.2:c.567-65_567-64insTGT NP_001186912.1:n.567-65_567-64insTGT
NM_005006.7:c.738-65_738-64insTGT MANE Select NP_004997.4:n.738-65_738-64insTGT
NM_001199984.2:c.780-65_780-64insTGT NP_001186913.1:n.780-65_780-64insTGT