Canonical Allele Identifier: CA2496476534

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206122430_206122435delinsACCAGC , CM000664.2:g.206122430_206122435delinsACCAGC	GRCh38
NC_000002.11:g.206987154_206987159delinsACCAGC , CM000664.1:g.206987154_206987159delinsACCAGC	GRCh37
NC_000002.10:g.206695399_206695404delinsACCAGC	NCBI36
NG_009248.1:g.42029_42034delinsGCTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.*1750_*1755delinsGCTGGT MANE Select	ENSP00000233190.5:n.*1750_*1755delinsGCTGGT
ENST00000233190.10:c.*1750_*1755delinsGCTGGT	ENSP00000233190.5:n.*1750_*1755delinsGCTGGT
NM_001199981.2:c.*1750_*1755delinsGCTGGT	NP_001186910.1:n.*1750_*1755delinsGCTGGT
NM_001199982.2:c.*1750_*1755delinsGCTGGT	NP_001186911.1:n.*1750_*1755delinsGCTGGT
NM_001199983.2:c.*1750_*1755delinsGCTGGT	NP_001186912.1:n.*1750_*1755delinsGCTGGT
NM_005006.7:c.*1750_*1755delinsGCTGGT MANE Select	NP_004997.4:n.*1750_*1755delinsGCTGGT
NM_001199984.2:c.*1750_*1755delinsGCTGGT	NP_001186913.1:n.*1750_*1755delinsGCTGGT