Canonical Allele Identifier: CA2496476470
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206122271_206122272delinsGC , CM000664.2:g.206122271_206122272delinsGC GRCh38
NC_000002.11:g.206986995_206986996delinsGC , CM000664.1:g.206986995_206986996delinsGC GRCh37
NC_000002.10:g.206695240_206695241delinsGC NCBI36
NG_009248.1:g.42192_42193delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.*1913_*1914delinsGC MANE Select ENSP00000233190.5:n.*1913_*1914delinsGC
ENST00000233190.10:c.*1913_*1914delinsGC ENSP00000233190.5:n.*1913_*1914delinsGC
NM_001199981.2:c.*1913_*1914delinsGC NP_001186910.1:n.*1913_*1914delinsGC
NM_001199982.2:c.*1913_*1914delinsGC NP_001186911.1:n.*1913_*1914delinsGC
NM_001199983.2:c.*1913_*1914delinsGC NP_001186912.1:n.*1913_*1914delinsGC
NM_005006.7:c.*1913_*1914delinsGC MANE Select NP_004997.4:n.*1913_*1914delinsGC
NM_001199984.2:c.*1913_*1914delinsGC NP_001186913.1:n.*1913_*1914delinsGC