Canonical Allele Identifier: CA10613950

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 333764
• ClinVar RCV Id: RCV000271891 ; RCV000364348
• dbSNP Id: rs58253838
• gnomAD v2: 2-206988062-T-TA
• gnomAD v3: 2-206123338-T-TA
• gnomAD v4: 2-206123338-T-TA
• COSMIC: COSN24050220
• MyVariant Identifiers: chr2:g.206988063dupA (hg19) ; chr2:g.206988064_206988065insA (hg19) ; chr2:g.206988062_206988063insA (hg19) ; chr2:g.206123339dupA (hg38) ; chr2:g.206123340_206123341insA (hg38) ; chr2:g.206123338_206123339insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206123350dup , CM000664.2:g.206123350dup	GRCh38
NC_000002.11:g.206988074dup , CM000664.1:g.206988074dup	GRCh37
NC_000002.10:g.206696319dup	NCBI36
NG_009248.1:g.41125dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000233190.11:c.*846dup MANE Select	ENSP00000233190.5:n.*846dup
ENST00000233190.10:c.*846dup	ENSP00000233190.5:n.*846dup
ENST00000455934.6:c.*846dup	ENSP00000392709.2:n.*846dup
NM_001199981.1:c.*846dup	NP_001186910.1:n.*846dup
NM_001199982.1:c.*846dup	NP_001186911.1:n.*846dup
NM_001199983.1:c.*846dup	NP_001186912.1:n.*846dup
NM_001199984.1:c.*846dup	NP_001186913.1:n.*846dup
NM_005006.6:c.*846dup	NP_004997.4:n.*846dup
NM_001199981.2:c.*846dup	NP_001186910.1:n.*846dup
NM_001199982.2:c.*846dup	NP_001186911.1:n.*846dup
NM_001199983.2:c.*846dup	NP_001186912.1:n.*846dup
NM_005006.7:c.*846dup MANE Select	NP_004997.4:n.*846dup
NM_001199984.2:c.*846dup	NP_001186913.1:n.*846dup