Canonical Allele Identifier: CA299749001

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs919786335
• gnomAD v3: 18-46087479-G-GTAC
• gnomAD v4: 18-46087479-G-GTAC
• MyVariant Identifiers: chr18:g.43667445_43667446insTAC (hg19) ; chr18:g.46087479_46087480insTAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087481_46087483dup , CM000680.2:g.46087481_46087483dup	GRCh38
NC_000018.9:g.43667447_43667449dup , CM000680.1:g.43667447_43667449dup	GRCh37
NC_000018.8:g.41921445_41921447dup	NCBI36
NG_041769.1:g.21752_21754dup
NG_041769.2:g.26752_26754dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.810_812dup MANE Select	ENSP00000381736.5:p.Tyr271Ter
ENST00000282050.6:c.810_812dup	ENSP00000282050.2:p.Tyr271Ter
ENST00000398752.10:c.810_812dup	ENSP00000381736.5:p.Tyr271Ter
ENST00000586523.1:n.1215_1217dup
ENST00000586592.5:c.*873_*875dup	ENSP00000466275.3:n.*873_*875dup
ENST00000589252.5:c.543_545dup	ENSP00000466975.1:p.Tyr182Ter
ENST00000590156.5:c.*706_*708dup	ENSP00000466309.1:n.*706_*708dup
ENST00000590665.5:c.744_746dup	ENSP00000467037.1:p.Tyr249Ter
ENST00000592364.5:c.227-418_227-416dup	ENSP00000468618.1:n.227-418_227-416dup
ENST00000593152.6:c.660_662dup	ENSP00000465477.2:p.Tyr221Ter
NM_001001935.2:c.660_662dup	NP_001001935.1:p.Tyr221Ter
NM_001001937.1:c.810_812dup	NP_001001937.1:p.Tyr271Ter
NM_001257334.1:c.744_746dup	NP_001244263.1:p.Tyr249Ter
NM_001257335.1:c.660_662dup	NP_001244264.1:p.Tyr221Ter
NM_004046.5:c.810_812dup	NP_004037.1:p.Tyr271Ter
XM_011526018.1:c.660_662dup	XP_011524320.1:p.Tyr221Ter
XM_017025789.1:c.810_812dup	XP_016881278.1:p.Tyr271Ter
NM_004046.6:c.810_812dup MANE Select	NP_004037.1:p.Tyr271Ter
NM_001001935.3:c.660_662dup	NP_001001935.1:p.Tyr221Ter
NM_001257334.2:c.744_746dup	NP_001244263.1:p.Tyr249Ter
NM_001001937.2:c.810_812dup	NP_001001937.1:p.Tyr271Ter
NM_001257335.2:c.660_662dup	NP_001244264.1:p.Tyr221Ter