Canonical Allele Identifier: CA539388282

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1428031999
• gnomAD v2: 2-206992639-T-TCGCCGTATCATTAAAAAA
• MyVariant Identifiers: chr2:g.206992639_206992640insCGCCGTATCATTAAAAAA (hg19) ; chr2:g.206127915_206127916insCGCCGTATCATTAAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127915_206127916insCGCCGTATCATTAAAAAA , CM000664.2:g.206127915_206127916insCGCCGTATCATTAAAAAA	GRCh38
NC_000002.11:g.206992639_206992640insCGCCGTATCATTAAAAAA , CM000664.1:g.206992639_206992640insCGCCGTATCATTAAAAAA	GRCh37
NC_000002.10:g.206700884_206700885insCGCCGTATCATTAAAAAA	NCBI36
NG_009248.1:g.36548_36549insTTTTTTAATGATACGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1765_1766insTTTTTTAATGATACGGCG MANE Select	ENSP00000233190.5:p.Tyr589PhefsTer3
ENST00000233190.10:c.1765_1766insTTTTTTAATGATACGGCG	ENSP00000233190.5:p.Tyr589PhefsTer3
ENST00000423725.5:c.1594_1595insTTTTTTAATGATACGGCG	ENSP00000397760.1:p.Tyr532PhefsTer3
ENST00000432169.5:c.1432_1433insTTTTTTAATGATACGGCG	ENSP00000409689.1:p.Tyr478PhefsTer3
ENST00000440274.5:c.1657_1658insTTTTTTAATGATACGGCG	ENSP00000409766.1:p.Tyr553PhefsTer3
ENST00000449699.5:c.1765_1766insTTTTTTAATGATACGGCG	ENSP00000399912.1:p.Tyr589PhefsTer3
ENST00000455934.6:c.1807_1808insTTTTTTAATGATACGGCG	ENSP00000392709.2:p.Tyr603PhefsTer3
ENST00000457011.5:c.1417_1418insTTTTTTAATGATACGGCG	ENSP00000400976.1:p.Tyr473PhefsTer3
ENST00000498520.1:n.237_238insTTTTTTAATGATACGGCG
NM_001199981.1:c.1657_1658insTTTTTTAATGATACGGCG	NP_001186910.1:p.Tyr553PhefsTer3
NM_001199982.1:c.1432_1433insTTTTTTAATGATACGGCG	NP_001186911.1:p.Tyr478PhefsTer3
NM_001199983.1:c.1594_1595insTTTTTTAATGATACGGCG	NP_001186912.1:p.Tyr532PhefsTer3
NM_001199984.1:c.1807_1808insTTTTTTAATGATACGGCG	NP_001186913.1:p.Tyr603PhefsTer3
NM_005006.6:c.1765_1766insTTTTTTAATGATACGGCG	NP_004997.4:p.Tyr589PhefsTer3
XM_017004188.2:c.1006_1007insTTTTTTAATGATACGGCG	XP_016859677.1:p.Tyr336PhefsTer3
NM_001199981.2:c.1657_1658insTTTTTTAATGATACGGCG	NP_001186910.1:p.Tyr553PhefsTer3
NM_001199982.2:c.1432_1433insTTTTTTAATGATACGGCG	NP_001186911.1:p.Tyr478PhefsTer3
NM_001199983.2:c.1594_1595insTTTTTTAATGATACGGCG	NP_001186912.1:p.Tyr532PhefsTer3
NM_005006.7:c.1765_1766insTTTTTTAATGATACGGCG MANE Select	NP_004997.4:p.Tyr589PhefsTer3
NM_001199984.2:c.1807_1808insTTTTTTAATGATACGGCG	NP_001186913.1:p.Tyr603PhefsTer3