Canonical Allele Identifier: CA2753997267

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145156_206145158del , CM000664.2:g.206145156_206145158del	GRCh38
NC_000002.11:g.207009880_207009882del , CM000664.1:g.207009880_207009882del	GRCh37
NC_000002.10:g.206718125_206718127del	NCBI36
NG_009248.1:g.19308_19310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.738-130_738-128del MANE Select	ENSP00000233190.5:n.738-130_738-128del
ENST00000233190.10:c.738-130_738-128del	ENSP00000233190.5:n.738-130_738-128del
ENST00000423725.5:c.567-130_567-128del	ENSP00000397760.1:n.567-130_567-128del
ENST00000432169.5:c.405-130_405-128del	ENSP00000409689.1:n.405-130_405-128del
ENST00000440274.5:c.630-130_630-128del	ENSP00000409766.1:n.630-130_630-128del
ENST00000449699.5:c.738-130_738-128del	ENSP00000399912.1:n.738-130_738-128del
ENST00000455934.6:c.780-130_780-128del	ENSP00000392709.2:n.780-130_780-128del
ENST00000457011.5:c.390-130_390-128del	ENSP00000400976.1:n.390-130_390-128del
NM_001199981.1:c.630-130_630-128del	NP_001186910.1:n.630-130_630-128del
NM_001199982.1:c.405-130_405-128del	NP_001186911.1:n.405-130_405-128del
NM_001199983.1:c.567-130_567-128del	NP_001186912.1:n.567-130_567-128del
NM_001199984.1:c.780-130_780-128del	NP_001186913.1:n.780-130_780-128del
NM_005006.6:c.738-130_738-128del	NP_004997.4:n.738-130_738-128del
XM_017004188.2:c.-53-99_-53-97del	XP_016859677.1:n.-53-99_-53-97del
NM_001199981.2:c.630-130_630-128del	NP_001186910.1:n.630-130_630-128del
NM_001199982.2:c.405-130_405-128del	NP_001186911.1:n.405-130_405-128del
NM_001199983.2:c.567-130_567-128del	NP_001186912.1:n.567-130_567-128del
NM_005006.7:c.738-130_738-128del MANE Select	NP_004997.4:n.738-130_738-128del
NM_001199984.2:c.780-130_780-128del	NP_001186913.1:n.780-130_780-128del