Canonical Allele Identifier: CA2753990707

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127948_206127949del , CM000664.2:g.206127948_206127949del	GRCh38
NC_000002.11:g.206992672_206992673del , CM000664.1:g.206992672_206992673del	GRCh37
NC_000002.10:g.206700917_206700918del	NCBI36
NG_009248.1:g.36516_36517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1733_1734del MANE Select	ENSP00000233190.5:p.Pro578HisfsTer3
ENST00000233190.10:c.1733_1734del	ENSP00000233190.5:p.Pro578HisfsTer3
ENST00000423725.5:c.1562_1563del	ENSP00000397760.1:p.Pro521HisfsTer3
ENST00000432169.5:c.1400_1401del	ENSP00000409689.1:p.Pro467HisfsTer3
ENST00000440274.5:c.1625_1626del	ENSP00000409766.1:p.Pro542HisfsTer3
ENST00000449699.5:c.1733_1734del	ENSP00000399912.1:p.Pro578HisfsTer3
ENST00000455934.6:c.1775_1776del	ENSP00000392709.2:p.Pro592HisfsTer3
ENST00000457011.5:c.1385_1386del	ENSP00000400976.1:p.Pro462HisfsTer3
ENST00000498520.1:n.205_206del
NM_001199981.1:c.1625_1626del	NP_001186910.1:p.Pro542HisfsTer3
NM_001199982.1:c.1400_1401del	NP_001186911.1:p.Pro467HisfsTer3
NM_001199983.1:c.1562_1563del	NP_001186912.1:p.Pro521HisfsTer3
NM_001199984.1:c.1775_1776del	NP_001186913.1:p.Pro592HisfsTer3
NM_005006.6:c.1733_1734del	NP_004997.4:p.Pro578HisfsTer3
XM_017004188.2:c.974_975del	XP_016859677.1:p.Pro325HisfsTer3
NM_001199981.2:c.1625_1626del	NP_001186910.1:p.Pro542HisfsTer3
NM_001199982.2:c.1400_1401del	NP_001186911.1:p.Pro467HisfsTer3
NM_001199983.2:c.1562_1563del	NP_001186912.1:p.Pro521HisfsTer3
NM_005006.7:c.1733_1734del MANE Select	NP_004997.4:p.Pro578HisfsTer3
NM_001199984.2:c.1775_1776del	NP_001186913.1:p.Pro592HisfsTer3