Canonical Allele Identifier: CA2753990716
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206127998_206127999insACT , CM000664.2:g.206127998_206127999insACT GRCh38
NC_000002.11:g.206992722_206992723insACT , CM000664.1:g.206992722_206992723insACT GRCh37
NC_000002.10:g.206700967_206700968insACT NCBI36
NG_009248.1:g.36465_36466insAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.1709-27_1709-26insAGT MANE Select ENSP00000233190.5:n.1709-27_1709-26insAGT
ENST00000233190.10:c.1709-27_1709-26insAGT ENSP00000233190.5:n.1709-27_1709-26insAGT
ENST00000423725.5:c.1538-27_1538-26insAGT ENSP00000397760.1:n.1538-27_1538-26insAGT
ENST00000432169.5:c.1376-27_1376-26insAGT ENSP00000409689.1:n.1376-27_1376-26insAGT
ENST00000440274.5:c.1601-27_1601-26insAGT ENSP00000409766.1:n.1601-27_1601-26insAGT
ENST00000449699.5:c.1709-27_1709-26insAGT ENSP00000399912.1:n.1709-27_1709-26insAGT
ENST00000455934.6:c.1751-27_1751-26insAGT ENSP00000392709.2:n.1751-27_1751-26insAGT
ENST00000457011.5:c.1361-27_1361-26insAGT ENSP00000400976.1:n.1361-27_1361-26insAGT
ENST00000498520.1:n.181-27_181-26insAGT
NM_001199981.1:c.1601-27_1601-26insAGT NP_001186910.1:n.1601-27_1601-26insAGT
NM_001199982.1:c.1376-27_1376-26insAGT NP_001186911.1:n.1376-27_1376-26insAGT
NM_001199983.1:c.1538-27_1538-26insAGT NP_001186912.1:n.1538-27_1538-26insAGT
NM_001199984.1:c.1751-27_1751-26insAGT NP_001186913.1:n.1751-27_1751-26insAGT
NM_005006.6:c.1709-27_1709-26insAGT NP_004997.4:n.1709-27_1709-26insAGT
XM_017004188.2:c.950-27_950-26insAGT XP_016859677.1:n.950-27_950-26insAGT
NM_001199981.2:c.1601-27_1601-26insAGT NP_001186910.1:n.1601-27_1601-26insAGT
NM_001199982.2:c.1376-27_1376-26insAGT NP_001186911.1:n.1376-27_1376-26insAGT
NM_001199983.2:c.1538-27_1538-26insAGT NP_001186912.1:n.1538-27_1538-26insAGT
NM_005006.7:c.1709-27_1709-26insAGT MANE Select NP_004997.4:n.1709-27_1709-26insAGT
NM_001199984.2:c.1751-27_1751-26insAGT NP_001186913.1:n.1751-27_1751-26insAGT