Canonical Allele Identifier: CA2496487240
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206144646_206144647delinsGA , CM000664.2:g.206144646_206144647delinsGA GRCh38
NC_000002.11:g.207009370_207009371delinsGA , CM000664.1:g.207009370_207009371delinsGA GRCh37
NC_000002.10:g.206717615_206717616delinsGA NCBI36
NG_009248.1:g.19817_19818delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.872+245_872+246delinsTC MANE Select ENSP00000233190.5:n.872+245_872+246delinsTC
ENST00000233190.10:c.872+245_872+246delinsTC ENSP00000233190.5:n.872+245_872+246delinsTC
ENST00000423725.5:c.701+245_701+246delinsTC ENSP00000397760.1:n.701+245_701+246delinsTC
ENST00000432169.5:c.539+245_539+246delinsTC ENSP00000409689.1:n.539+245_539+246delinsTC
ENST00000440274.5:c.764+245_764+246delinsTC ENSP00000409766.1:n.764+245_764+246delinsTC
ENST00000449699.5:c.872+245_872+246delinsTC ENSP00000399912.1:n.872+245_872+246delinsTC
ENST00000455934.6:c.914+245_914+246delinsTC ENSP00000392709.2:n.914+245_914+246delinsTC
ENST00000457011.5:c.524+245_524+246delinsTC ENSP00000400976.1:n.524+245_524+246delinsTC
NM_001199981.1:c.764+245_764+246delinsTC NP_001186910.1:n.764+245_764+246delinsTC
NM_001199982.1:c.539+245_539+246delinsTC NP_001186911.1:n.539+245_539+246delinsTC
NM_001199983.1:c.701+245_701+246delinsTC NP_001186912.1:n.701+245_701+246delinsTC
NM_001199984.1:c.914+245_914+246delinsTC NP_001186913.1:n.914+245_914+246delinsTC
NM_005006.6:c.872+245_872+246delinsTC NP_004997.4:n.872+245_872+246delinsTC
XM_017004188.2:c.113+245_113+246delinsTC XP_016859677.1:n.113+245_113+246delinsTC
NM_001199981.2:c.764+245_764+246delinsTC NP_001186910.1:n.764+245_764+246delinsTC
NM_001199982.2:c.539+245_539+246delinsTC NP_001186911.1:n.539+245_539+246delinsTC
NM_001199983.2:c.701+245_701+246delinsTC NP_001186912.1:n.701+245_701+246delinsTC
NM_005006.7:c.872+245_872+246delinsTC MANE Select NP_004997.4:n.872+245_872+246delinsTC
NM_001199984.2:c.914+245_914+246delinsTC NP_001186913.1:n.914+245_914+246delinsTC