Canonical Allele Identifier: CA2839105575

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488676dup , CM000679.2:g.63488676dup	GRCh38
NC_000017.10:g.61566037dup , CM000679.1:g.61566037dup	GRCh37
NC_000017.9:g.58919769dup	NCBI36
NG_011648.1:g.16604dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2334dup MANE Select	ENSP00000290866.4:p.Lys779GlufsTer3
ENST00000290863.10:c.612dup	ENSP00000290863.6:p.Lys205GlufsTer3
ENST00000290866.9:c.2334dup	ENSP00000290866.4:p.Lys779GlufsTer3
ENST00000413513.7:c.612dup	ENSP00000392247.3:p.Lys205GlufsTer3
ENST00000428043.5:c.2334dup	ENSP00000397593.2:p.Lys779GlufsTer3
ENST00000577647.2:c.612dup	ENSP00000464149.1:p.Lys205GlufsTer3
ENST00000578839.5:c.*404dup	ENSP00000462110.2:n.*404dup
ENST00000579204.1:c.593dup	ENSP00000464629.1:n.593dup
ENST00000579314.5:c.*63dup	ENSP00000462599.1:n.*63dup
ENST00000582005.5:c.*254dup	ENSP00000462002.1:n.*254dup
ENST00000582761.1:c.102dup	ENSP00000462909.1:p.Lys35GlufsTer3
ENST00000584865.5:n.280dup
NM_000789.3:c.2334dup	NP_000780.1:p.Lys779GlufsTer3
NM_001178057.1:c.612dup	NP_001171528.1:p.Lys205GlufsTer3
NM_152830.2:c.612dup	NP_690043.1:p.Lys205GlufsTer3
XM_005257110.1:c.1785dup	XP_005257167.1:p.Lys596GlufsTer3
XM_006721737.2:c.672dup	XP_006721800.2:p.Lys225GlufsTer3
XM_006721737.3:c.672dup	XP_006721800.2:p.Lys225GlufsTer3
NM_000789.4:c.2334dup MANE Select	NP_000780.1:p.Lys779GlufsTer3
NM_001178057.2:c.612dup	NP_001171528.1:p.Lys205GlufsTer3
NM_152830.3:c.612dup	NP_690043.1:p.Lys205GlufsTer3
NM_001382700.1:c.1767dup	NP_001369629.1:p.Lys590GlufsTer3
NM_001382701.1:c.1482dup	NP_001369630.1:p.Lys495GlufsTer3
NM_001382702.1:c.264dup	NP_001369631.1:p.Lys89GlufsTer3
NR_168483.1:n.712dup