Canonical Allele Identifier: CA2753990712
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206127993_206127994del , CM000664.2:g.206127993_206127994del GRCh38
NC_000002.11:g.206992717_206992718del , CM000664.1:g.206992717_206992718del GRCh37
NC_000002.10:g.206700962_206700963del NCBI36
NG_009248.1:g.36470_36471del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.1709-22_1709-21del MANE Select ENSP00000233190.5:n.1709-22_1709-21del
ENST00000233190.10:c.1709-22_1709-21del ENSP00000233190.5:n.1709-22_1709-21del
ENST00000423725.5:c.1538-22_1538-21del ENSP00000397760.1:n.1538-22_1538-21del
ENST00000432169.5:c.1376-22_1376-21del ENSP00000409689.1:n.1376-22_1376-21del
ENST00000440274.5:c.1601-22_1601-21del ENSP00000409766.1:n.1601-22_1601-21del
ENST00000449699.5:c.1709-22_1709-21del ENSP00000399912.1:n.1709-22_1709-21del
ENST00000455934.6:c.1751-22_1751-21del ENSP00000392709.2:n.1751-22_1751-21del
ENST00000457011.5:c.1361-22_1361-21del ENSP00000400976.1:n.1361-22_1361-21del
ENST00000498520.1:n.181-22_181-21del
NM_001199981.1:c.1601-22_1601-21del NP_001186910.1:n.1601-22_1601-21del
NM_001199982.1:c.1376-22_1376-21del NP_001186911.1:n.1376-22_1376-21del
NM_001199983.1:c.1538-22_1538-21del NP_001186912.1:n.1538-22_1538-21del
NM_001199984.1:c.1751-22_1751-21del NP_001186913.1:n.1751-22_1751-21del
NM_005006.6:c.1709-22_1709-21del NP_004997.4:n.1709-22_1709-21del
XM_017004188.2:c.950-22_950-21del XP_016859677.1:n.950-22_950-21del
NM_001199981.2:c.1601-22_1601-21del NP_001186910.1:n.1601-22_1601-21del
NM_001199982.2:c.1376-22_1376-21del NP_001186911.1:n.1376-22_1376-21del
NM_001199983.2:c.1538-22_1538-21del NP_001186912.1:n.1538-22_1538-21del
NM_005006.7:c.1709-22_1709-21del MANE Select NP_004997.4:n.1709-22_1709-21del
NM_001199984.2:c.1751-22_1751-21del NP_001186913.1:n.1751-22_1751-21del