Canonical Allele Identifier: CA2753990736
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206128024_206128025insAC , CM000664.2:g.206128024_206128025insAC GRCh38
NC_000002.11:g.206992748_206992749insAC , CM000664.1:g.206992748_206992749insAC GRCh37
NC_000002.10:g.206700993_206700994insAC NCBI36
NG_009248.1:g.36440_36441insTG

Transcript Alleles

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