Canonical Allele Identifier: CA2753997173
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145063_206145065del , CM000664.2:g.206145063_206145065del GRCh38
NC_000002.11:g.207009787_207009789del , CM000664.1:g.207009787_207009789del GRCh37
NC_000002.10:g.206718032_206718034del NCBI36
NG_009248.1:g.19399_19401del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.738-39_738-37del MANE Select ENSP00000233190.5:n.738-39_738-37del
ENST00000233190.10:c.738-39_738-37del ENSP00000233190.5:n.738-39_738-37del
ENST00000423725.5:c.567-39_567-37del ENSP00000397760.1:n.567-39_567-37del
ENST00000432169.5:c.405-39_405-37del ENSP00000409689.1:n.405-39_405-37del
ENST00000440274.5:c.630-39_630-37del ENSP00000409766.1:n.630-39_630-37del
ENST00000449699.5:c.738-39_738-37del ENSP00000399912.1:n.738-39_738-37del
ENST00000455934.6:c.780-39_780-37del ENSP00000392709.2:n.780-39_780-37del
ENST00000457011.5:c.390-39_390-37del ENSP00000400976.1:n.390-39_390-37del
NM_001199981.1:c.630-39_630-37del NP_001186910.1:n.630-39_630-37del
NM_001199982.1:c.405-39_405-37del NP_001186911.1:n.405-39_405-37del
NM_001199983.1:c.567-39_567-37del NP_001186912.1:n.567-39_567-37del
NM_001199984.1:c.780-39_780-37del NP_001186913.1:n.780-39_780-37del
NM_005006.6:c.738-39_738-37del NP_004997.4:n.738-39_738-37del
XM_017004188.2:c.-53-8_-53-6del XP_016859677.1:n.-53-8_-53-6del
NM_001199981.2:c.630-39_630-37del NP_001186910.1:n.630-39_630-37del
NM_001199982.2:c.405-39_405-37del NP_001186911.1:n.405-39_405-37del
NM_001199983.2:c.567-39_567-37del NP_001186912.1:n.567-39_567-37del
NM_005006.7:c.738-39_738-37del MANE Select NP_004997.4:n.738-39_738-37del
NM_001199984.2:c.780-39_780-37del NP_001186913.1:n.780-39_780-37del