Canonical Allele Identifier: CA2662804028

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206145079-TCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145080_206145082del , CM000664.2:g.206145080_206145082del	GRCh38
NC_000002.11:g.207009804_207009806del , CM000664.1:g.207009804_207009806del	GRCh37
NC_000002.10:g.206718049_206718051del	NCBI36
NG_009248.1:g.19382_19384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.738-56_738-54del MANE Select	ENSP00000233190.5:n.738-56_738-54del
ENST00000233190.10:c.738-56_738-54del	ENSP00000233190.5:n.738-56_738-54del
ENST00000423725.5:c.567-56_567-54del	ENSP00000397760.1:n.567-56_567-54del
ENST00000432169.5:c.405-56_405-54del	ENSP00000409689.1:n.405-56_405-54del
ENST00000440274.5:c.630-56_630-54del	ENSP00000409766.1:n.630-56_630-54del
ENST00000449699.5:c.738-56_738-54del	ENSP00000399912.1:n.738-56_738-54del
ENST00000455934.6:c.780-56_780-54del	ENSP00000392709.2:n.780-56_780-54del
ENST00000457011.5:c.390-56_390-54del	ENSP00000400976.1:n.390-56_390-54del
NM_001199981.1:c.630-56_630-54del	NP_001186910.1:n.630-56_630-54del
NM_001199982.1:c.405-56_405-54del	NP_001186911.1:n.405-56_405-54del
NM_001199983.1:c.567-56_567-54del	NP_001186912.1:n.567-56_567-54del
NM_001199984.1:c.780-56_780-54del	NP_001186913.1:n.780-56_780-54del
NM_005006.6:c.738-56_738-54del	NP_004997.4:n.738-56_738-54del
XM_017004188.2:c.-53-25_-53-23del	XP_016859677.1:n.-53-25_-53-23del
NM_001199981.2:c.630-56_630-54del	NP_001186910.1:n.630-56_630-54del
NM_001199982.2:c.405-56_405-54del	NP_001186911.1:n.405-56_405-54del
NM_001199983.2:c.567-56_567-54del	NP_001186912.1:n.567-56_567-54del
NM_005006.7:c.738-56_738-54del MANE Select	NP_004997.4:n.738-56_738-54del
NM_001199984.2:c.780-56_780-54del	NP_001186913.1:n.780-56_780-54del