Canonical Allele Identifier: CA2070664

Gene: NDUFS1

Linked Data

• dbSNP Id: rs746437744
• ExAC: 2:207009763 T / TACA
• gnomAD v2: 2-207009763-T-TACA
• gnomAD v4: 2-206145039-T-TACA
• MyVariant Identifiers: chr2:g.207009763_207009764insACA (hg19) ; chr2:g.206145039_206145040insACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145041_206145042insAAC , CM000664.2:g.206145041_206145042insAAC	GRCh38
NC_000002.11:g.207009765_207009766insAAC , CM000664.1:g.207009765_207009766insAAC	GRCh37
NC_000002.10:g.206718010_206718011insAAC	NCBI36
NG_009248.1:g.19424_19425insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.738-14_738-13insTGT MANE Select	ENSP00000233190.5:n.738-14_738-13insTGT
ENST00000233190.10:c.738-14_738-13insTGT	ENSP00000233190.5:n.738-14_738-13insTGT
ENST00000423725.5:c.567-14_567-13insTGT	ENSP00000397760.1:n.567-14_567-13insTGT
ENST00000432169.5:c.405-14_405-13insTGT	ENSP00000409689.1:n.405-14_405-13insTGT
ENST00000440274.5:c.630-14_630-13insTGT	ENSP00000409766.1:n.630-14_630-13insTGT
ENST00000449699.5:c.738-14_738-13insTGT	ENSP00000399912.1:n.738-14_738-13insTGT
ENST00000455934.6:c.780-14_780-13insTGT	ENSP00000392709.2:n.780-14_780-13insTGT
ENST00000457011.5:c.390-14_390-13insTGT	ENSP00000400976.1:n.390-14_390-13insTGT
NM_001199981.1:c.630-14_630-13insTGT	NP_001186910.1:n.630-14_630-13insTGT
NM_001199982.1:c.405-14_405-13insTGT	NP_001186911.1:n.405-14_405-13insTGT
NM_001199983.1:c.567-14_567-13insTGT	NP_001186912.1:n.567-14_567-13insTGT
NM_001199984.1:c.780-14_780-13insTGT	NP_001186913.1:n.780-14_780-13insTGT
NM_005006.6:c.738-14_738-13insTGT	NP_004997.4:n.738-14_738-13insTGT
XM_017004188.2:c.-36_-35insTGT	XP_016859677.1:n.-36_-35insTGT
NM_001199981.2:c.630-14_630-13insTGT	NP_001186910.1:n.630-14_630-13insTGT
NM_001199982.2:c.405-14_405-13insTGT	NP_001186911.1:n.405-14_405-13insTGT
NM_001199983.2:c.567-14_567-13insTGT	NP_001186912.1:n.567-14_567-13insTGT
NM_005006.7:c.738-14_738-13insTGT MANE Select	NP_004997.4:n.738-14_738-13insTGT
NM_001199984.2:c.780-14_780-13insTGT	NP_001186913.1:n.780-14_780-13insTGT