Canonical Allele Identifier: CA539388281

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1389380103
• gnomAD v2: 2-206992637-T-TG
• MyVariant Identifiers: chr2:g.206992637_206992638insG (hg19) ; chr2:g.206127913_206127914insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127914dup , CM000664.2:g.206127914dup	GRCh38
NC_000002.11:g.206992638dup , CM000664.1:g.206992638dup	GRCh37
NC_000002.10:g.206700883dup	NCBI36
NG_009248.1:g.36550dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1767dup MANE Select	ENSP00000233190.5:p.Thr590HisfsTer11
ENST00000233190.10:c.1767dup	ENSP00000233190.5:p.Thr590HisfsTer11
ENST00000423725.5:c.1596dup	ENSP00000397760.1:p.Thr533HisfsTer11
ENST00000432169.5:c.1434dup	ENSP00000409689.1:p.Thr479HisfsTer11
ENST00000440274.5:c.1659dup	ENSP00000409766.1:p.Thr554HisfsTer11
ENST00000449699.5:c.1767dup	ENSP00000399912.1:p.Thr590HisfsTer11
ENST00000455934.6:c.1809dup	ENSP00000392709.2:p.Thr604HisfsTer11
ENST00000457011.5:c.1419dup	ENSP00000400976.1:p.Thr474HisfsTer11
ENST00000498520.1:n.239dup
NM_001199981.1:c.1659dup	NP_001186910.1:p.Thr554HisfsTer11
NM_001199982.1:c.1434dup	NP_001186911.1:p.Thr479HisfsTer11
NM_001199983.1:c.1596dup	NP_001186912.1:p.Thr533HisfsTer11
NM_001199984.1:c.1809dup	NP_001186913.1:p.Thr604HisfsTer11
NM_005006.6:c.1767dup	NP_004997.4:p.Thr590HisfsTer11
XM_017004188.2:c.1008dup	XP_016859677.1:p.Thr337HisfsTer11
NM_001199981.2:c.1659dup	NP_001186910.1:p.Thr554HisfsTer11
NM_001199982.2:c.1434dup	NP_001186911.1:p.Thr479HisfsTer11
NM_001199983.2:c.1596dup	NP_001186912.1:p.Thr533HisfsTer11
NM_005006.7:c.1767dup MANE Select	NP_004997.4:p.Thr590HisfsTer11
NM_001199984.2:c.1809dup	NP_001186913.1:p.Thr604HisfsTer11