Canonical Allele Identifier: CA2553789006

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127917del , CM000664.2:g.206127917del	GRCh38
NC_000002.11:g.206992641del , CM000664.1:g.206992641del	GRCh37
NC_000002.10:g.206700886del	NCBI36
NG_009248.1:g.36548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1765del MANE Select	ENSP00000233190.5:p.Tyr589ThrfsTer20
ENST00000233190.10:c.1765del	ENSP00000233190.5:p.Tyr589ThrfsTer20
ENST00000423725.5:c.1594del	ENSP00000397760.1:p.Tyr532ThrfsTer20
ENST00000432169.5:c.1432del	ENSP00000409689.1:p.Tyr478ThrfsTer20
ENST00000440274.5:c.1657del	ENSP00000409766.1:p.Tyr553ThrfsTer20
ENST00000449699.5:c.1765del	ENSP00000399912.1:p.Tyr589ThrfsTer20
ENST00000455934.6:c.1807del	ENSP00000392709.2:p.Tyr603ThrfsTer20
ENST00000457011.5:c.1417del	ENSP00000400976.1:p.Tyr473ThrfsTer20
ENST00000498520.1:n.237del
NM_001199981.1:c.1657del	NP_001186910.1:p.Tyr553ThrfsTer20
NM_001199982.1:c.1432del	NP_001186911.1:p.Tyr478ThrfsTer20
NM_001199983.1:c.1594del	NP_001186912.1:p.Tyr532ThrfsTer20
NM_001199984.1:c.1807del	NP_001186913.1:p.Tyr603ThrfsTer20
NM_005006.6:c.1765del	NP_004997.4:p.Tyr589ThrfsTer20
XM_017004188.2:c.1006del	XP_016859677.1:p.Tyr336ThrfsTer20
NM_001199981.2:c.1657del	NP_001186910.1:p.Tyr553ThrfsTer20
NM_001199982.2:c.1432del	NP_001186911.1:p.Tyr478ThrfsTer20
NM_001199983.2:c.1594del	NP_001186912.1:p.Tyr532ThrfsTer20
NM_005006.7:c.1765del MANE Select	NP_004997.4:p.Tyr589ThrfsTer20
NM_001199984.2:c.1807del	NP_001186913.1:p.Tyr603ThrfsTer20