Canonical Allele Identifier: CA2496476555
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206122458_206122460delinsGTC , CM000664.2:g.206122458_206122460delinsGTC GRCh38
NC_000002.11:g.206987182_206987184delinsGTC , CM000664.1:g.206987182_206987184delinsGTC GRCh37
NC_000002.10:g.206695427_206695429delinsGTC NCBI36
NG_009248.1:g.42004_42006delinsGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.*1725_*1727delinsGAC MANE Select ENSP00000233190.5:n.*1725_*1727delinsGAC
ENST00000233190.10:c.*1725_*1727delinsGAC ENSP00000233190.5:n.*1725_*1727delinsGAC
NM_001199981.2:c.*1725_*1727delinsGAC NP_001186910.1:n.*1725_*1727delinsGAC
NM_001199982.2:c.*1725_*1727delinsGAC NP_001186911.1:n.*1725_*1727delinsGAC
NM_001199983.2:c.*1725_*1727delinsGAC NP_001186912.1:n.*1725_*1727delinsGAC
NM_005006.7:c.*1725_*1727delinsGAC MANE Select NP_004997.4:n.*1725_*1727delinsGAC
NM_001199984.2:c.*1725_*1727delinsGAC NP_001186913.1:n.*1725_*1727delinsGAC