Canonical Allele Identifier: CA2496487201
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206144574_206144575delinsTG , CM000664.2:g.206144574_206144575delinsTG GRCh38
NC_000002.11:g.207009298_207009299delinsTG , CM000664.1:g.207009298_207009299delinsTG GRCh37
NC_000002.10:g.206717543_206717544delinsTG NCBI36
NG_009248.1:g.19889_19890delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.872+317_872+318delinsCA MANE Select ENSP00000233190.5:n.872+317_872+318delinsCA
ENST00000233190.10:c.872+317_872+318delinsCA ENSP00000233190.5:n.872+317_872+318delinsCA
ENST00000423725.5:c.701+317_701+318delinsCA ENSP00000397760.1:n.701+317_701+318delinsCA
ENST00000432169.5:c.539+317_539+318delinsCA ENSP00000409689.1:n.539+317_539+318delinsCA
ENST00000440274.5:c.764+317_764+318delinsCA ENSP00000409766.1:n.764+317_764+318delinsCA
ENST00000449699.5:c.872+317_872+318delinsCA ENSP00000399912.1:n.872+317_872+318delinsCA
ENST00000455934.6:c.914+317_914+318delinsCA ENSP00000392709.2:n.914+317_914+318delinsCA
ENST00000457011.5:c.524+317_524+318delinsCA ENSP00000400976.1:n.524+317_524+318delinsCA
NM_001199981.1:c.764+317_764+318delinsCA NP_001186910.1:n.764+317_764+318delinsCA
NM_001199982.1:c.539+317_539+318delinsCA NP_001186911.1:n.539+317_539+318delinsCA
NM_001199983.1:c.701+317_701+318delinsCA NP_001186912.1:n.701+317_701+318delinsCA
NM_001199984.1:c.914+317_914+318delinsCA NP_001186913.1:n.914+317_914+318delinsCA
NM_005006.6:c.872+317_872+318delinsCA NP_004997.4:n.872+317_872+318delinsCA
XM_017004188.2:c.113+317_113+318delinsCA XP_016859677.1:n.113+317_113+318delinsCA
NM_001199981.2:c.764+317_764+318delinsCA NP_001186910.1:n.764+317_764+318delinsCA
NM_001199982.2:c.539+317_539+318delinsCA NP_001186911.1:n.539+317_539+318delinsCA
NM_001199983.2:c.701+317_701+318delinsCA NP_001186912.1:n.701+317_701+318delinsCA
NM_005006.7:c.872+317_872+318delinsCA MANE Select NP_004997.4:n.872+317_872+318delinsCA
NM_001199984.2:c.914+317_914+318delinsCA NP_001186913.1:n.914+317_914+318delinsCA