Canonical Allele Identifier: CA539058192

Gene: NDUFS1

Linked Data

• gnomAD v2: 2-207009920-TGCCCTGGGG-T
• gnomAD v3: 2-206145196-TGCCCTGGGG-T
• gnomAD v4: 2-206145196-TGCCCTGGGG-T
• MyVariant Identifiers: chr2:g.207009921_207009929del (hg19) ; chr2:g.206145197_206145205del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145197_206145205del , CM000664.2:g.206145197_206145205del	GRCh38
NC_000002.11:g.207009921_207009929del , CM000664.1:g.207009921_207009929del	GRCh37
NC_000002.10:g.206718166_206718174del	NCBI36
NG_009248.1:g.19259_19267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.738-179_738-171del MANE Select	ENSP00000233190.5:n.738-179_738-171del
ENST00000233190.10:c.738-179_738-171del	ENSP00000233190.5:n.738-179_738-171del
ENST00000423725.5:c.567-179_567-171del	ENSP00000397760.1:n.567-179_567-171del
ENST00000432169.5:c.405-179_405-171del	ENSP00000409689.1:n.405-179_405-171del
ENST00000440274.5:c.630-179_630-171del	ENSP00000409766.1:n.630-179_630-171del
ENST00000449699.5:c.738-179_738-171del	ENSP00000399912.1:n.738-179_738-171del
ENST00000455934.6:c.780-179_780-171del	ENSP00000392709.2:n.780-179_780-171del
ENST00000457011.5:c.390-179_390-171del	ENSP00000400976.1:n.390-179_390-171del
NM_001199981.1:c.630-179_630-171del	NP_001186910.1:n.630-179_630-171del
NM_001199982.1:c.405-179_405-171del	NP_001186911.1:n.405-179_405-171del
NM_001199983.1:c.567-179_567-171del	NP_001186912.1:n.567-179_567-171del
NM_001199984.1:c.780-179_780-171del	NP_001186913.1:n.780-179_780-171del
NM_005006.6:c.738-179_738-171del	NP_004997.4:n.738-179_738-171del
XM_017004188.2:c.-53-148_-53-140del	XP_016859677.1:n.-53-148_-53-140del
NM_001199981.2:c.630-179_630-171del	NP_001186910.1:n.630-179_630-171del
NM_001199982.2:c.405-179_405-171del	NP_001186911.1:n.405-179_405-171del
NM_001199983.2:c.567-179_567-171del	NP_001186912.1:n.567-179_567-171del
NM_005006.7:c.738-179_738-171del MANE Select	NP_004997.4:n.738-179_738-171del
NM_001199984.2:c.780-179_780-171del	NP_001186913.1:n.780-179_780-171del