Canonical Allele Identifier: CA2070449

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 333782
• ClinVar RCV Id: RCV001519149
• dbSNP Id: rs760292289
• ExAC: 2:206997835 TA / T
• gnomAD v2: 2-206997835-TA-T
• gnomAD v3: 2-206133111-TA-T
• gnomAD v4: 2-206133111-TA-T
• COSMIC: COSM1614187
• MyVariant Identifiers: chr2:g.206997837del (hg19) ; chr2:g.206997836del (hg19) ; chr2:g.206133113del (hg38) ; chr2:g.206133112del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206133122del , CM000664.2:g.206133122del	GRCh38
NC_000002.11:g.206997846del , CM000664.1:g.206997846del	GRCh37
NC_000002.10:g.206706091del	NCBI36
NG_009248.1:g.31352del

Transcript Alleles

HGVS	Amino-acid change
ENST00000233190.11:c.1393-7del MANE Select	ENSP00000233190.5:n.1393-7del
ENST00000233190.10:c.1393-7del	ENSP00000233190.5:n.1393-7del
ENST00000423725.5:c.1222-7del	ENSP00000397760.1:n.1222-7del
ENST00000432169.5:c.1060-7del	ENSP00000409689.1:n.1060-7del
ENST00000440274.5:c.1285-7del	ENSP00000409766.1:n.1285-7del
ENST00000449699.5:c.1393-7del	ENSP00000399912.1:n.1393-7del
ENST00000455934.6:c.1435-7del	ENSP00000392709.2:n.1435-7del
ENST00000457011.5:c.1045-7del	ENSP00000400976.1:n.1045-7del
NM_001199981.1:c.1285-7del	NP_001186910.1:n.1285-7del
NM_001199982.1:c.1060-7del	NP_001186911.1:n.1060-7del
NM_001199983.1:c.1222-7del	NP_001186912.1:n.1222-7del
NM_001199984.1:c.1435-7del	NP_001186913.1:n.1435-7del
NM_005006.6:c.1393-7del	NP_004997.4:n.1393-7del
XM_017004188.2:c.634-7del	XP_016859677.1:n.634-7del
NM_001199981.2:c.1285-7del	NP_001186910.1:n.1285-7del
NM_001199982.2:c.1060-7del	NP_001186911.1:n.1060-7del
NM_001199983.2:c.1222-7del	NP_001186912.1:n.1222-7del
NM_005006.7:c.1393-7del MANE Select	NP_004997.4:n.1393-7del
NM_001199984.2:c.1435-7del	NP_001186913.1:n.1435-7del