Canonical Allele Identifier: CA2496476551
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206122453_206122454delinsAC , CM000664.2:g.206122453_206122454delinsAC GRCh38
NC_000002.11:g.206987177_206987178delinsAC , CM000664.1:g.206987177_206987178delinsAC GRCh37
NC_000002.10:g.206695422_206695423delinsAC NCBI36
NG_009248.1:g.42010_42011delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.*1731_*1732delinsGT MANE Select ENSP00000233190.5:n.*1731_*1732delinsGT
ENST00000233190.10:c.*1731_*1732delinsGT ENSP00000233190.5:n.*1731_*1732delinsGT
NM_001199981.2:c.*1731_*1732delinsGT NP_001186910.1:n.*1731_*1732delinsGT
NM_001199982.2:c.*1731_*1732delinsGT NP_001186911.1:n.*1731_*1732delinsGT
NM_001199983.2:c.*1731_*1732delinsGT NP_001186912.1:n.*1731_*1732delinsGT
NM_005006.7:c.*1731_*1732delinsGT MANE Select NP_004997.4:n.*1731_*1732delinsGT
NM_001199984.2:c.*1731_*1732delinsGT NP_001186913.1:n.*1731_*1732delinsGT