Canonical Allele Identifier: CA2753990735
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206128024_206128025del , CM000664.2:g.206128024_206128025del GRCh38
NC_000002.11:g.206992748_206992749del , CM000664.1:g.206992748_206992749del GRCh37
NC_000002.10:g.206700993_206700994del NCBI36
NG_009248.1:g.36440_36441del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.1709-52_1709-51del MANE Select ENSP00000233190.5:n.1709-52_1709-51del
ENST00000233190.10:c.1709-52_1709-51del ENSP00000233190.5:n.1709-52_1709-51del
ENST00000423725.5:c.1538-52_1538-51del ENSP00000397760.1:n.1538-52_1538-51del
ENST00000432169.5:c.1376-52_1376-51del ENSP00000409689.1:n.1376-52_1376-51del
ENST00000440274.5:c.1601-52_1601-51del ENSP00000409766.1:n.1601-52_1601-51del
ENST00000449699.5:c.1709-52_1709-51del ENSP00000399912.1:n.1709-52_1709-51del
ENST00000455934.6:c.1751-52_1751-51del ENSP00000392709.2:n.1751-52_1751-51del
ENST00000457011.5:c.1361-52_1361-51del ENSP00000400976.1:n.1361-52_1361-51del
ENST00000498520.1:n.181-52_181-51del
NM_001199981.1:c.1601-52_1601-51del NP_001186910.1:n.1601-52_1601-51del
NM_001199982.1:c.1376-52_1376-51del NP_001186911.1:n.1376-52_1376-51del
NM_001199983.1:c.1538-52_1538-51del NP_001186912.1:n.1538-52_1538-51del
NM_001199984.1:c.1751-52_1751-51del NP_001186913.1:n.1751-52_1751-51del
NM_005006.6:c.1709-52_1709-51del NP_004997.4:n.1709-52_1709-51del
XM_017004188.2:c.950-52_950-51del XP_016859677.1:n.950-52_950-51del
NM_001199981.2:c.1601-52_1601-51del NP_001186910.1:n.1601-52_1601-51del
NM_001199982.2:c.1376-52_1376-51del NP_001186911.1:n.1376-52_1376-51del
NM_001199983.2:c.1538-52_1538-51del NP_001186912.1:n.1538-52_1538-51del
NM_005006.7:c.1709-52_1709-51del MANE Select NP_004997.4:n.1709-52_1709-51del
NM_001199984.2:c.1751-52_1751-51del NP_001186913.1:n.1751-52_1751-51del