Canonical Allele Identifier: CA2496487262
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206144683_206144684delinsGA , CM000664.2:g.206144683_206144684delinsGA GRCh38
NC_000002.11:g.207009407_207009408delinsGA , CM000664.1:g.207009407_207009408delinsGA GRCh37
NC_000002.10:g.206717652_206717653delinsGA NCBI36
NG_009248.1:g.19780_19781delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.872+208_872+209delinsTC MANE Select ENSP00000233190.5:n.872+208_872+209delinsTC
ENST00000233190.10:c.872+208_872+209delinsTC ENSP00000233190.5:n.872+208_872+209delinsTC
ENST00000423725.5:c.701+208_701+209delinsTC ENSP00000397760.1:n.701+208_701+209delinsTC
ENST00000432169.5:c.539+208_539+209delinsTC ENSP00000409689.1:n.539+208_539+209delinsTC
ENST00000440274.5:c.764+208_764+209delinsTC ENSP00000409766.1:n.764+208_764+209delinsTC
ENST00000449699.5:c.872+208_872+209delinsTC ENSP00000399912.1:n.872+208_872+209delinsTC
ENST00000455934.6:c.914+208_914+209delinsTC ENSP00000392709.2:n.914+208_914+209delinsTC
ENST00000457011.5:c.524+208_524+209delinsTC ENSP00000400976.1:n.524+208_524+209delinsTC
NM_001199981.1:c.764+208_764+209delinsTC NP_001186910.1:n.764+208_764+209delinsTC
NM_001199982.1:c.539+208_539+209delinsTC NP_001186911.1:n.539+208_539+209delinsTC
NM_001199983.1:c.701+208_701+209delinsTC NP_001186912.1:n.701+208_701+209delinsTC
NM_001199984.1:c.914+208_914+209delinsTC NP_001186913.1:n.914+208_914+209delinsTC
NM_005006.6:c.872+208_872+209delinsTC NP_004997.4:n.872+208_872+209delinsTC
XM_017004188.2:c.113+208_113+209delinsTC XP_016859677.1:n.113+208_113+209delinsTC
NM_001199981.2:c.764+208_764+209delinsTC NP_001186910.1:n.764+208_764+209delinsTC
NM_001199982.2:c.539+208_539+209delinsTC NP_001186911.1:n.539+208_539+209delinsTC
NM_001199983.2:c.701+208_701+209delinsTC NP_001186912.1:n.701+208_701+209delinsTC
NM_005006.7:c.872+208_872+209delinsTC MANE Select NP_004997.4:n.872+208_872+209delinsTC
NM_001199984.2:c.914+208_914+209delinsTC NP_001186913.1:n.914+208_914+209delinsTC