Canonical Allele Identifier: CA2753997190
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145088_206145089insACA , CM000664.2:g.206145088_206145089insACA GRCh38
NC_000002.11:g.207009812_207009813insACA , CM000664.1:g.207009812_207009813insACA GRCh37
NC_000002.10:g.206718057_206718058insACA NCBI36
NG_009248.1:g.19375_19376insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.738-63_738-62insTGT MANE Select ENSP00000233190.5:n.738-63_738-62insTGT
ENST00000233190.10:c.738-63_738-62insTGT ENSP00000233190.5:n.738-63_738-62insTGT
ENST00000423725.5:c.567-63_567-62insTGT ENSP00000397760.1:n.567-63_567-62insTGT
ENST00000432169.5:c.405-63_405-62insTGT ENSP00000409689.1:n.405-63_405-62insTGT
ENST00000440274.5:c.630-63_630-62insTGT ENSP00000409766.1:n.630-63_630-62insTGT
ENST00000449699.5:c.738-63_738-62insTGT ENSP00000399912.1:n.738-63_738-62insTGT
ENST00000455934.6:c.780-63_780-62insTGT ENSP00000392709.2:n.780-63_780-62insTGT
ENST00000457011.5:c.390-63_390-62insTGT ENSP00000400976.1:n.390-63_390-62insTGT
NM_001199981.1:c.630-63_630-62insTGT NP_001186910.1:n.630-63_630-62insTGT
NM_001199982.1:c.405-63_405-62insTGT NP_001186911.1:n.405-63_405-62insTGT
NM_001199983.1:c.567-63_567-62insTGT NP_001186912.1:n.567-63_567-62insTGT
NM_001199984.1:c.780-63_780-62insTGT NP_001186913.1:n.780-63_780-62insTGT
NM_005006.6:c.738-63_738-62insTGT NP_004997.4:n.738-63_738-62insTGT
XM_017004188.2:c.-53-32_-53-31insTGT XP_016859677.1:n.-53-32_-53-31insTGT
NM_001199981.2:c.630-63_630-62insTGT NP_001186910.1:n.630-63_630-62insTGT
NM_001199982.2:c.405-63_405-62insTGT NP_001186911.1:n.405-63_405-62insTGT
NM_001199983.2:c.567-63_567-62insTGT NP_001186912.1:n.567-63_567-62insTGT
NM_005006.7:c.738-63_738-62insTGT MANE Select NP_004997.4:n.738-63_738-62insTGT
NM_001199984.2:c.780-63_780-62insTGT NP_001186913.1:n.780-63_780-62insTGT