Canonical Allele Identifier: CA2577222177
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145031_206145032del , CM000664.2:g.206145031_206145032del GRCh38
NC_000002.11:g.207009755_207009756del , CM000664.1:g.207009755_207009756del GRCh37
NC_000002.10:g.206718000_206718001del NCBI36
NG_009248.1:g.19434_19435del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.738-4_738-3del MANE Select ENSP00000233190.5:n.738-4_738-3del
ENST00000233190.10:c.738-4_738-3del ENSP00000233190.5:n.738-4_738-3del
ENST00000423725.5:c.567-4_567-3del ENSP00000397760.1:n.567-4_567-3del
ENST00000432169.5:c.405-4_405-3del ENSP00000409689.1:n.405-4_405-3del
ENST00000440274.5:c.630-4_630-3del ENSP00000409766.1:n.630-4_630-3del
ENST00000449699.5:c.738-4_738-3del ENSP00000399912.1:n.738-4_738-3del
ENST00000455934.6:c.780-4_780-3del ENSP00000392709.2:n.780-4_780-3del
ENST00000457011.5:c.390-4_390-3del ENSP00000400976.1:n.390-4_390-3del
NM_001199981.1:c.630-4_630-3del NP_001186910.1:n.630-4_630-3del
NM_001199982.1:c.405-4_405-3del NP_001186911.1:n.405-4_405-3del
NM_001199983.1:c.567-4_567-3del NP_001186912.1:n.567-4_567-3del
NM_001199984.1:c.780-4_780-3del NP_001186913.1:n.780-4_780-3del
NM_005006.6:c.738-4_738-3del NP_004997.4:n.738-4_738-3del
XM_017004188.2:c.-26_-25del XP_016859677.1:n.-26_-25del
NM_001199981.2:c.630-4_630-3del NP_001186910.1:n.630-4_630-3del
NM_001199982.2:c.405-4_405-3del NP_001186911.1:n.405-4_405-3del
NM_001199983.2:c.567-4_567-3del NP_001186912.1:n.567-4_567-3del
NM_005006.7:c.738-4_738-3del MANE Select NP_004997.4:n.738-4_738-3del
NM_001199984.2:c.780-4_780-3del NP_001186913.1:n.780-4_780-3del