Canonical Allele Identifier: CA2496487496
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145197_206145198delinsGC , CM000664.2:g.206145197_206145198delinsGC GRCh38
NC_000002.11:g.207009921_207009922delinsGC , CM000664.1:g.207009921_207009922delinsGC GRCh37
NC_000002.10:g.206718166_206718167delinsGC NCBI36
NG_009248.1:g.19266_19267delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.738-172_738-171delinsGC MANE Select ENSP00000233190.5:n.738-172_738-171delinsGC
ENST00000233190.10:c.738-172_738-171delinsGC ENSP00000233190.5:n.738-172_738-171delinsGC
ENST00000423725.5:c.567-172_567-171delinsGC ENSP00000397760.1:n.567-172_567-171delinsGC
ENST00000432169.5:c.405-172_405-171delinsGC ENSP00000409689.1:n.405-172_405-171delinsGC
ENST00000440274.5:c.630-172_630-171delinsGC ENSP00000409766.1:n.630-172_630-171delinsGC
ENST00000449699.5:c.738-172_738-171delinsGC ENSP00000399912.1:n.738-172_738-171delinsGC
ENST00000455934.6:c.780-172_780-171delinsGC ENSP00000392709.2:n.780-172_780-171delinsGC
ENST00000457011.5:c.390-172_390-171delinsGC ENSP00000400976.1:n.390-172_390-171delinsGC
NM_001199981.1:c.630-172_630-171delinsGC NP_001186910.1:n.630-172_630-171delinsGC
NM_001199982.1:c.405-172_405-171delinsGC NP_001186911.1:n.405-172_405-171delinsGC
NM_001199983.1:c.567-172_567-171delinsGC NP_001186912.1:n.567-172_567-171delinsGC
NM_001199984.1:c.780-172_780-171delinsGC NP_001186913.1:n.780-172_780-171delinsGC
NM_005006.6:c.738-172_738-171delinsGC NP_004997.4:n.738-172_738-171delinsGC
XM_017004188.2:c.-53-141_-53-140delinsGC XP_016859677.1:n.-53-141_-53-140delinsGC
NM_001199981.2:c.630-172_630-171delinsGC NP_001186910.1:n.630-172_630-171delinsGC
NM_001199982.2:c.405-172_405-171delinsGC NP_001186911.1:n.405-172_405-171delinsGC
NM_001199983.2:c.567-172_567-171delinsGC NP_001186912.1:n.567-172_567-171delinsGC
NM_005006.7:c.738-172_738-171delinsGC MANE Select NP_004997.4:n.738-172_738-171delinsGC
NM_001199984.2:c.780-172_780-171delinsGC NP_001186913.1:n.780-172_780-171delinsGC