Canonical Allele Identifier: CA2753990718
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206128000_206128001insGT , CM000664.2:g.206128000_206128001insGT GRCh38
NC_000002.11:g.206992724_206992725insGT , CM000664.1:g.206992724_206992725insGT GRCh37
NC_000002.10:g.206700969_206700970insGT NCBI36
NG_009248.1:g.36463_36464insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.1709-29_1709-28insAC MANE Select ENSP00000233190.5:n.1709-29_1709-28insAC
ENST00000233190.10:c.1709-29_1709-28insAC ENSP00000233190.5:n.1709-29_1709-28insAC
ENST00000423725.5:c.1538-29_1538-28insAC ENSP00000397760.1:n.1538-29_1538-28insAC
ENST00000432169.5:c.1376-29_1376-28insAC ENSP00000409689.1:n.1376-29_1376-28insAC
ENST00000440274.5:c.1601-29_1601-28insAC ENSP00000409766.1:n.1601-29_1601-28insAC
ENST00000449699.5:c.1709-29_1709-28insAC ENSP00000399912.1:n.1709-29_1709-28insAC
ENST00000455934.6:c.1751-29_1751-28insAC ENSP00000392709.2:n.1751-29_1751-28insAC
ENST00000457011.5:c.1361-29_1361-28insAC ENSP00000400976.1:n.1361-29_1361-28insAC
ENST00000498520.1:n.181-29_181-28insAC
NM_001199981.1:c.1601-29_1601-28insAC NP_001186910.1:n.1601-29_1601-28insAC
NM_001199982.1:c.1376-29_1376-28insAC NP_001186911.1:n.1376-29_1376-28insAC
NM_001199983.1:c.1538-29_1538-28insAC NP_001186912.1:n.1538-29_1538-28insAC
NM_001199984.1:c.1751-29_1751-28insAC NP_001186913.1:n.1751-29_1751-28insAC
NM_005006.6:c.1709-29_1709-28insAC NP_004997.4:n.1709-29_1709-28insAC
XM_017004188.2:c.950-29_950-28insAC XP_016859677.1:n.950-29_950-28insAC
NM_001199981.2:c.1601-29_1601-28insAC NP_001186910.1:n.1601-29_1601-28insAC
NM_001199982.2:c.1376-29_1376-28insAC NP_001186911.1:n.1376-29_1376-28insAC
NM_001199983.2:c.1538-29_1538-28insAC NP_001186912.1:n.1538-29_1538-28insAC
NM_005006.7:c.1709-29_1709-28insAC MANE Select NP_004997.4:n.1709-29_1709-28insAC
NM_001199984.2:c.1751-29_1751-28insAC NP_001186913.1:n.1751-29_1751-28insAC