Canonical Allele Identifier: CA2496489255

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1692266055
• gnomAD v4: 2-206149024-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206149030del , CM000664.2:g.206149030del	GRCh38
NC_000002.11:g.207013754del , CM000664.1:g.207013754del	GRCh37
NC_000002.10:g.206721999del	NCBI36
NG_009248.1:g.15439del

Transcript Alleles

HGVS	Amino-acid change
ENST00000233190.11:c.333del MANE Select	ENSP00000233190.5:p.Ala112ProfsTer5
ENST00000233190.10:c.333del	ENSP00000233190.5:p.Ala112ProfsTer5
ENST00000423725.5:c.162del	ENSP00000397760.1:p.Ala55ProfsTer5
ENST00000432169.5:c.6-1191del	ENSP00000409689.1:n.6-1191del
ENST00000440274.5:c.225del	ENSP00000409766.1:p.Ala76ProfsTer5
ENST00000449699.5:c.333del	ENSP00000399912.1:p.Ala112ProfsTer5
ENST00000454195.1:c.333del	ENSP00000389413.1:p.Ala112ProfsTer5
ENST00000455934.6:c.375del	ENSP00000392709.2:p.Ala126ProfsTer5
ENST00000456284.5:c.*95del	ENSP00000395553.1:n.*95del
ENST00000457011.5:c.-10-1191del	ENSP00000400976.1:n.-10-1191del
NM_001199981.1:c.225del	NP_001186910.1:p.Ala76ProfsTer5
NM_001199982.1:c.6-1191del	NP_001186911.1:n.6-1191del
NM_001199983.1:c.162del	NP_001186912.1:p.Ala55ProfsTer5
NM_001199984.1:c.375del	NP_001186913.1:p.Ala126ProfsTer5
NM_005006.6:c.333del	NP_004997.4:p.Ala112ProfsTer5
XM_017004188.2:c.-458del	XP_016859677.1:n.-458del
NM_001199981.2:c.225del	NP_001186910.1:p.Ala76ProfsTer5
NM_001199982.2:c.6-1191del	NP_001186911.1:n.6-1191del
NM_001199983.2:c.162del	NP_001186912.1:p.Ala55ProfsTer5
NM_005006.7:c.333del MANE Select	NP_004997.4:p.Ala112ProfsTer5
NM_001199984.2:c.375del	NP_001186913.1:p.Ala126ProfsTer5