Canonical Allele Identifier: CA2963774963

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488670dup , CM000679.2:g.63488670dup	GRCh38
NC_000017.10:g.61566031dup , CM000679.1:g.61566031dup	GRCh37
NC_000017.9:g.58919763dup	NCBI36
NG_011648.1:g.16598dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2328dup MANE Select	ENSP00000290866.4:p.Ser777ValfsTer5
ENST00000290863.10:c.606dup	ENSP00000290863.6:p.Ser203ValfsTer5
ENST00000290866.9:c.2328dup	ENSP00000290866.4:p.Ser777ValfsTer5
ENST00000413513.7:c.606dup	ENSP00000392247.3:p.Ser203ValfsTer5
ENST00000428043.5:c.2328dup	ENSP00000397593.2:p.Ser777ValfsTer5
ENST00000577647.2:c.606dup	ENSP00000464149.1:p.Ser203ValfsTer5
ENST00000578839.5:c.*398dup	ENSP00000462110.2:n.*398dup
ENST00000579204.1:c.587dup	ENSP00000464629.1:n.587dup
ENST00000579314.5:c.*57dup	ENSP00000462599.1:n.*57dup
ENST00000582005.5:c.*248dup	ENSP00000462002.1:n.*248dup
ENST00000582761.1:c.96dup	ENSP00000462909.1:p.Ser33ValfsTer5
ENST00000584865.5:n.274dup
NM_000789.3:c.2328dup	NP_000780.1:p.Ser777ValfsTer5
NM_001178057.1:c.606dup	NP_001171528.1:p.Ser203ValfsTer5
NM_152830.2:c.606dup	NP_690043.1:p.Ser203ValfsTer5
XM_005257110.1:c.1779dup	XP_005257167.1:p.Ser594ValfsTer5
XM_006721737.2:c.666dup	XP_006721800.2:p.Ser223ValfsTer5
XM_006721737.3:c.666dup	XP_006721800.2:p.Ser223ValfsTer5
NM_000789.4:c.2328dup MANE Select	NP_000780.1:p.Ser777ValfsTer5
NM_001178057.2:c.606dup	NP_001171528.1:p.Ser203ValfsTer5
NM_152830.3:c.606dup	NP_690043.1:p.Ser203ValfsTer5
NM_001382700.1:c.1761dup	NP_001369629.1:p.Ser588ValfsTer5
NM_001382701.1:c.1476dup	NP_001369630.1:p.Ser493ValfsTer5
NM_001382702.1:c.258dup	NP_001369631.1:p.Ser87ValfsTer5
NR_168483.1:n.706dup