Canonical Allele Identifier: CA2753997214

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145107_206145108insAAAATGTGGTGAGAGGATAGTTTGAGCCCAGGAGTTCTAGGCTGCAGTGAATTATGATCATGCCACTG , CM000664.2:g.206145107_206145108insAAAATGTGGTGAGAGGATAGTTTGAGCCCAGGAGTTCTAGGCTGCAGTGAATTATGATCATGCCACTG	GRCh38
NC_000002.11:g.207009831_207009832insAAAATGTGGTGAGAGGATAGTTTGAGCCCAGGAGTTCTAGGCTGCAGTGAATTATGATCATGCCACTG , CM000664.1:g.207009831_207009832insAAAATGTGGTGAGAGGATAGTTTGAGCCCAGGAGTTCTAGGCTGCAGTGAATTATGATCATGCCACTG	GRCh37
NC_000002.10:g.206718076_206718077insAAAATGTGGTGAGAGGATAGTTTGAGCCCAGGAGTTCTAGGCTGCAGTGAATTATGATCATGCCACTG	NCBI36
NG_009248.1:g.19356_19357insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.738-82_738-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT MANE Select	ENSP00000233190.5:n.738-82_738-81insCAGTGGCATGATCATAATTCACTGC...
ENST00000233190.10:c.738-82_738-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	ENSP00000233190.5:n.738-82_738-81insCAGTGGCATGATCATAATTCACTGC...
ENST00000423725.5:c.567-82_567-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	ENSP00000397760.1:n.567-82_567-81insCAGTGGCATGATCATAATTCACTGC...
ENST00000432169.5:c.405-82_405-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	ENSP00000409689.1:n.405-82_405-81insCAGTGGCATGATCATAATTCACTGC...
ENST00000440274.5:c.630-82_630-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	ENSP00000409766.1:n.630-82_630-81insCAGTGGCATGATCATAATTCACTGC...
ENST00000449699.5:c.738-82_738-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	ENSP00000399912.1:n.738-82_738-81insCAGTGGCATGATCATAATTCACTGC...
ENST00000455934.6:c.780-82_780-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	ENSP00000392709.2:n.780-82_780-81insCAGTGGCATGATCATAATTCACTGC...
ENST00000457011.5:c.390-82_390-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	ENSP00000400976.1:n.390-82_390-81insCAGTGGCATGATCATAATTCACTGC...
NM_001199981.1:c.630-82_630-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	NP_001186910.1:n.630-82_630-81insCAGTGGCATGATCATAATTCACTGCAGC...
NM_001199982.1:c.405-82_405-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	NP_001186911.1:n.405-82_405-81insCAGTGGCATGATCATAATTCACTGCAGC...
NM_001199983.1:c.567-82_567-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	NP_001186912.1:n.567-82_567-81insCAGTGGCATGATCATAATTCACTGCAGC...
NM_001199984.1:c.780-82_780-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	NP_001186913.1:n.780-82_780-81insCAGTGGCATGATCATAATTCACTGCAGC...
NM_005006.6:c.738-82_738-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	NP_004997.4:n.738-82_738-81insCAGTGGCATGATCATAATTCACTGCAGCCTA...
XM_017004188.2:c.-53-51_-53-50insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	XP_016859677.1:n.-53-51_-53-50insCAGTGGCATGATCATAATTCACTGCAGC...
NM_001199981.2:c.630-82_630-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	NP_001186910.1:n.630-82_630-81insCAGTGGCATGATCATAATTCACTGCAGC...
NM_001199982.2:c.405-82_405-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	NP_001186911.1:n.405-82_405-81insCAGTGGCATGATCATAATTCACTGCAGC...
NM_001199983.2:c.567-82_567-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	NP_001186912.1:n.567-82_567-81insCAGTGGCATGATCATAATTCACTGCAGC...
NM_005006.7:c.738-82_738-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT MANE Select	NP_004997.4:n.738-82_738-81insCAGTGGCATGATCATAATTCACTGCAGCCTA...
NM_001199984.2:c.780-82_780-81insCAGTGGCATGATCATAATTCACTGCAGCCTAGAACTCCTGGGCTCAAACTATCCTCTCACCACATTTT	NP_001186913.1:n.780-82_780-81insCAGTGGCATGATCATAATTCACTGCAGC...