Canonical Allele Identifier: CA2753990726
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206128009_206128012del , CM000664.2:g.206128009_206128012del GRCh38
NC_000002.11:g.206992733_206992736del , CM000664.1:g.206992733_206992736del GRCh37
NC_000002.10:g.206700978_206700981del NCBI36
NG_009248.1:g.36453_36456del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.1709-39_1709-36del MANE Select ENSP00000233190.5:n.1709-39_1709-36del
ENST00000233190.10:c.1709-39_1709-36del ENSP00000233190.5:n.1709-39_1709-36del
ENST00000423725.5:c.1538-39_1538-36del ENSP00000397760.1:n.1538-39_1538-36del
ENST00000432169.5:c.1376-39_1376-36del ENSP00000409689.1:n.1376-39_1376-36del
ENST00000440274.5:c.1601-39_1601-36del ENSP00000409766.1:n.1601-39_1601-36del
ENST00000449699.5:c.1709-39_1709-36del ENSP00000399912.1:n.1709-39_1709-36del
ENST00000455934.6:c.1751-39_1751-36del ENSP00000392709.2:n.1751-39_1751-36del
ENST00000457011.5:c.1361-39_1361-36del ENSP00000400976.1:n.1361-39_1361-36del
ENST00000498520.1:n.181-39_181-36del
NM_001199981.1:c.1601-39_1601-36del NP_001186910.1:n.1601-39_1601-36del
NM_001199982.1:c.1376-39_1376-36del NP_001186911.1:n.1376-39_1376-36del
NM_001199983.1:c.1538-39_1538-36del NP_001186912.1:n.1538-39_1538-36del
NM_001199984.1:c.1751-39_1751-36del NP_001186913.1:n.1751-39_1751-36del
NM_005006.6:c.1709-39_1709-36del NP_004997.4:n.1709-39_1709-36del
XM_017004188.2:c.950-39_950-36del XP_016859677.1:n.950-39_950-36del
NM_001199981.2:c.1601-39_1601-36del NP_001186910.1:n.1601-39_1601-36del
NM_001199982.2:c.1376-39_1376-36del NP_001186911.1:n.1376-39_1376-36del
NM_001199983.2:c.1538-39_1538-36del NP_001186912.1:n.1538-39_1538-36del
NM_005006.7:c.1709-39_1709-36del MANE Select NP_004997.4:n.1709-39_1709-36del
NM_001199984.2:c.1751-39_1751-36del NP_001186913.1:n.1751-39_1751-36del