Canonical Allele Identifier: CA2753990742
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206128029_206128030del , CM000664.2:g.206128029_206128030del GRCh38
NC_000002.11:g.206992753_206992754del , CM000664.1:g.206992753_206992754del GRCh37
NC_000002.10:g.206700998_206700999del NCBI36
NG_009248.1:g.36435_36436del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.1709-57_1709-56del MANE Select ENSP00000233190.5:n.1709-57_1709-56del
ENST00000233190.10:c.1709-57_1709-56del ENSP00000233190.5:n.1709-57_1709-56del
ENST00000423725.5:c.1538-57_1538-56del ENSP00000397760.1:n.1538-57_1538-56del
ENST00000432169.5:c.1376-57_1376-56del ENSP00000409689.1:n.1376-57_1376-56del
ENST00000440274.5:c.1601-57_1601-56del ENSP00000409766.1:n.1601-57_1601-56del
ENST00000449699.5:c.1709-57_1709-56del ENSP00000399912.1:n.1709-57_1709-56del
ENST00000455934.6:c.1751-57_1751-56del ENSP00000392709.2:n.1751-57_1751-56del
ENST00000457011.5:c.1361-57_1361-56del ENSP00000400976.1:n.1361-57_1361-56del
ENST00000498520.1:n.181-57_181-56del
NM_001199981.1:c.1601-57_1601-56del NP_001186910.1:n.1601-57_1601-56del
NM_001199982.1:c.1376-57_1376-56del NP_001186911.1:n.1376-57_1376-56del
NM_001199983.1:c.1538-57_1538-56del NP_001186912.1:n.1538-57_1538-56del
NM_001199984.1:c.1751-57_1751-56del NP_001186913.1:n.1751-57_1751-56del
NM_005006.6:c.1709-57_1709-56del NP_004997.4:n.1709-57_1709-56del
XM_017004188.2:c.950-57_950-56del XP_016859677.1:n.950-57_950-56del
NM_001199981.2:c.1601-57_1601-56del NP_001186910.1:n.1601-57_1601-56del
NM_001199982.2:c.1376-57_1376-56del NP_001186911.1:n.1376-57_1376-56del
NM_001199983.2:c.1538-57_1538-56del NP_001186912.1:n.1538-57_1538-56del
NM_005006.7:c.1709-57_1709-56del MANE Select NP_004997.4:n.1709-57_1709-56del
NM_001199984.2:c.1751-57_1751-56del NP_001186913.1:n.1751-57_1751-56del