Canonical Allele Identifier: CA2639263167

Gene: ACE

Linked Data

• gnomAD v4: 17-63486679-AGAACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486681_63486685del , CM000679.2:g.63486681_63486685del	GRCh38
NC_000017.10:g.61564042_61564046del , CM000679.1:g.61564042_61564046del	GRCh37
NC_000017.9:g.58917774_58917778del	NCBI36
NG_011648.1:g.14609_14613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2183_2187del MANE Select	ENSP00000290866.4:p.Glu728GlyfsTer?
ENST00000290863.10:c.461_465del	ENSP00000290863.6:p.Glu154GlyfsTer?
ENST00000290866.9:c.2183_2187del	ENSP00000290866.4:p.Glu728GlyfsTer?
ENST00000413513.7:c.461_465del	ENSP00000392247.3:p.Glu154GlyfsTer?
ENST00000428043.5:c.2183_2187del	ENSP00000397593.2:p.Glu728GlyfsTer?
ENST00000577647.2:c.461_465del	ENSP00000464149.1:p.Glu154GlyfsTer?
ENST00000578839.5:c.*253_*257del	ENSP00000462110.2:n.*253_*257del
ENST00000579204.1:c.364_368del	ENSP00000464629.1:n.364_368del
ENST00000579314.5:c.461_465del	ENSP00000462599.1:p.Glu154GlyfsTer?
ENST00000579726.5:c.745_749del
ENST00000582005.5:c.*103_*107del	ENSP00000462002.1:n.*103_*107del
NM_000789.3:c.2183_2187del	NP_000780.1:p.Glu728GlyfsTer?
NM_001178057.1:c.461_465del	NP_001171528.1:p.Glu154GlyfsTer?
NM_152830.2:c.461_465del	NP_690043.1:p.Glu154GlyfsTer?
XM_005257110.1:c.1634_1638del	XP_005257167.1:p.Glu545GlyfsTer?
XM_006721737.2:c.521_525del	XP_006721800.2:p.Glu174GlyfsTer?
XM_006721737.3:c.521_525del	XP_006721800.2:p.Glu174GlyfsTer?
NM_000789.4:c.2183_2187del MANE Select	NP_000780.1:p.Glu728GlyfsTer?
NM_001178057.2:c.461_465del	NP_001171528.1:p.Glu154GlyfsTer?
NM_152830.3:c.461_465del	NP_690043.1:p.Glu154GlyfsTer?
NM_001382700.1:c.1616_1620del	NP_001369629.1:p.Glu539GlyfsTer?
NM_001382701.1:c.1331_1335del	NP_001369630.1:p.Glu444GlyfsTer?
NM_001382702.1:c.113_117del	NP_001369631.1:p.Glu38GlyfsTer?
NR_168483.1:n.483_487del