Canonical Allele Identifier: CA2753997201
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145094_206145095insACT , CM000664.2:g.206145094_206145095insACT GRCh38
NC_000002.11:g.207009818_207009819insACT , CM000664.1:g.207009818_207009819insACT GRCh37
NC_000002.10:g.206718063_206718064insACT NCBI36
NG_009248.1:g.19369_19370insAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.738-69_738-68insAGT MANE Select ENSP00000233190.5:n.738-69_738-68insAGT
ENST00000233190.10:c.738-69_738-68insAGT ENSP00000233190.5:n.738-69_738-68insAGT
ENST00000423725.5:c.567-69_567-68insAGT ENSP00000397760.1:n.567-69_567-68insAGT
ENST00000432169.5:c.405-69_405-68insAGT ENSP00000409689.1:n.405-69_405-68insAGT
ENST00000440274.5:c.630-69_630-68insAGT ENSP00000409766.1:n.630-69_630-68insAGT
ENST00000449699.5:c.738-69_738-68insAGT ENSP00000399912.1:n.738-69_738-68insAGT
ENST00000455934.6:c.780-69_780-68insAGT ENSP00000392709.2:n.780-69_780-68insAGT
ENST00000457011.5:c.390-69_390-68insAGT ENSP00000400976.1:n.390-69_390-68insAGT
NM_001199981.1:c.630-69_630-68insAGT NP_001186910.1:n.630-69_630-68insAGT
NM_001199982.1:c.405-69_405-68insAGT NP_001186911.1:n.405-69_405-68insAGT
NM_001199983.1:c.567-69_567-68insAGT NP_001186912.1:n.567-69_567-68insAGT
NM_001199984.1:c.780-69_780-68insAGT NP_001186913.1:n.780-69_780-68insAGT
NM_005006.6:c.738-69_738-68insAGT NP_004997.4:n.738-69_738-68insAGT
XM_017004188.2:c.-53-38_-53-37insAGT XP_016859677.1:n.-53-38_-53-37insAGT
NM_001199981.2:c.630-69_630-68insAGT NP_001186910.1:n.630-69_630-68insAGT
NM_001199982.2:c.405-69_405-68insAGT NP_001186911.1:n.405-69_405-68insAGT
NM_001199983.2:c.567-69_567-68insAGT NP_001186912.1:n.567-69_567-68insAGT
NM_005006.7:c.738-69_738-68insAGT MANE Select NP_004997.4:n.738-69_738-68insAGT
NM_001199984.2:c.780-69_780-68insAGT NP_001186913.1:n.780-69_780-68insAGT