Canonical Allele Identifier: CA2753990711
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206127991_206127992insACA , CM000664.2:g.206127991_206127992insACA GRCh38
NC_000002.11:g.206992715_206992716insACA , CM000664.1:g.206992715_206992716insACA GRCh37
NC_000002.10:g.206700960_206700961insACA NCBI36
NG_009248.1:g.36472_36473insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.1709-20_1709-19insTGT MANE Select ENSP00000233190.5:n.1709-20_1709-19insTGT
ENST00000233190.10:c.1709-20_1709-19insTGT ENSP00000233190.5:n.1709-20_1709-19insTGT
ENST00000423725.5:c.1538-20_1538-19insTGT ENSP00000397760.1:n.1538-20_1538-19insTGT
ENST00000432169.5:c.1376-20_1376-19insTGT ENSP00000409689.1:n.1376-20_1376-19insTGT
ENST00000440274.5:c.1601-20_1601-19insTGT ENSP00000409766.1:n.1601-20_1601-19insTGT
ENST00000449699.5:c.1709-20_1709-19insTGT ENSP00000399912.1:n.1709-20_1709-19insTGT
ENST00000455934.6:c.1751-20_1751-19insTGT ENSP00000392709.2:n.1751-20_1751-19insTGT
ENST00000457011.5:c.1361-20_1361-19insTGT ENSP00000400976.1:n.1361-20_1361-19insTGT
ENST00000498520.1:n.181-20_181-19insTGT
NM_001199981.1:c.1601-20_1601-19insTGT NP_001186910.1:n.1601-20_1601-19insTGT
NM_001199982.1:c.1376-20_1376-19insTGT NP_001186911.1:n.1376-20_1376-19insTGT
NM_001199983.1:c.1538-20_1538-19insTGT NP_001186912.1:n.1538-20_1538-19insTGT
NM_001199984.1:c.1751-20_1751-19insTGT NP_001186913.1:n.1751-20_1751-19insTGT
NM_005006.6:c.1709-20_1709-19insTGT NP_004997.4:n.1709-20_1709-19insTGT
XM_017004188.2:c.950-20_950-19insTGT XP_016859677.1:n.950-20_950-19insTGT
NM_001199981.2:c.1601-20_1601-19insTGT NP_001186910.1:n.1601-20_1601-19insTGT
NM_001199982.2:c.1376-20_1376-19insTGT NP_001186911.1:n.1376-20_1376-19insTGT
NM_001199983.2:c.1538-20_1538-19insTGT NP_001186912.1:n.1538-20_1538-19insTGT
NM_005006.7:c.1709-20_1709-19insTGT MANE Select NP_004997.4:n.1709-20_1709-19insTGT
NM_001199984.2:c.1751-20_1751-19insTGT NP_001186913.1:n.1751-20_1751-19insTGT