Canonical Allele Identifier: CA2070348

Gene: NDUFS1

Linked Data

• dbSNP Id: rs755039425
• ExAC: 2:206992618 T / TA
• gnomAD v2: 2-206992618-T-TA
• gnomAD v4: 2-206127894-T-TA
• MyVariant Identifiers: chr2:g.206992618_206992619insA (hg19) ; chr2:g.206127894_206127895insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127895dup , CM000664.2:g.206127895dup	GRCh38
NC_000002.11:g.206992619dup , CM000664.1:g.206992619dup	GRCh37
NC_000002.10:g.206700864dup	NCBI36
NG_009248.1:g.36569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1786dup MANE Select	ENSP00000233190.5:p.Tyr596LeufsTer5
ENST00000233190.10:c.1786dup	ENSP00000233190.5:p.Tyr596LeufsTer5
ENST00000423725.5:c.1615dup	ENSP00000397760.1:p.Tyr539LeufsTer5
ENST00000432169.5:c.1453dup	ENSP00000409689.1:p.Tyr485LeufsTer5
ENST00000440274.5:c.1678dup	ENSP00000409766.1:p.Tyr560LeufsTer5
ENST00000449699.5:c.1786dup	ENSP00000399912.1:p.Tyr596LeufsTer5
ENST00000455934.6:c.1828dup	ENSP00000392709.2:p.Tyr610LeufsTer5
ENST00000457011.5:c.1438dup	ENSP00000400976.1:p.Tyr480LeufsTer5
ENST00000498520.1:n.258dup
NM_001199981.1:c.1678dup	NP_001186910.1:p.Tyr560LeufsTer5
NM_001199982.1:c.1453dup	NP_001186911.1:p.Tyr485LeufsTer5
NM_001199983.1:c.1615dup	NP_001186912.1:p.Tyr539LeufsTer5
NM_001199984.1:c.1828dup	NP_001186913.1:p.Tyr610LeufsTer5
NM_005006.6:c.1786dup	NP_004997.4:p.Tyr596LeufsTer5
XM_017004188.2:c.1027dup	XP_016859677.1:p.Tyr343LeufsTer5
NM_001199981.2:c.1678dup	NP_001186910.1:p.Tyr560LeufsTer5
NM_001199982.2:c.1453dup	NP_001186911.1:p.Tyr485LeufsTer5
NM_001199983.2:c.1615dup	NP_001186912.1:p.Tyr539LeufsTer5
NM_005006.7:c.1786dup MANE Select	NP_004997.4:p.Tyr596LeufsTer5
NM_001199984.2:c.1828dup	NP_001186913.1:p.Tyr610LeufsTer5