Canonical Allele Identifier: CA2733905804

Gene: ACE

Linked Data

• dbSNP Id: rs2147580512

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497225del , CM000679.2:g.63497225del	GRCh38
NC_000017.10:g.61574586del , CM000679.1:g.61574586del	GRCh37
NC_000017.9:g.58928318del	NCBI36
NG_011648.1:g.25153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3780del MANE Select	ENSP00000290866.4:p.Trp1260CysfsTer12
ENST00000290863.10:c.2058del	ENSP00000290863.6:p.Trp686CysfsTer12
ENST00000290866.9:c.3780del	ENSP00000290866.4:p.Trp1260CysfsTer12
ENST00000413513.7:c.1935del	ENSP00000392247.3:p.Trp645CysfsTer12
ENST00000428043.5:c.*202del	ENSP00000397593.2:n.*202del
ENST00000577647.2:c.1969+240del	ENSP00000464149.1:n.1969+240del
ENST00000578839.5:c.*1535del	ENSP00000462110.2:n.*1535del
ENST00000579314.5:c.*1509del	ENSP00000462599.1:n.*1509del
NM_000789.3:c.3780del	NP_000780.1:p.Trp1260CysfsTer12
NM_001178057.1:c.1935del	NP_001171528.1:p.Trp645CysfsTer12
NM_152830.2:c.2058del	NP_690043.1:p.Trp686CysfsTer12
XM_005257110.1:c.3231del	XP_005257167.1:p.Trp1077CysfsTer12
XM_006721737.2:c.2118del	XP_006721800.2:p.Trp706CysfsTer12
XM_006721737.3:c.2118del	XP_006721800.2:p.Trp706CysfsTer12
NM_000789.4:c.3780del MANE Select	NP_000780.1:p.Trp1260CysfsTer12
NM_001178057.2:c.1935del	NP_001171528.1:p.Trp645CysfsTer12
NM_152830.3:c.2058del	NP_690043.1:p.Trp686CysfsTer12
NM_001382700.1:c.3213del	NP_001369629.1:p.Trp1071CysfsTer12
NM_001382701.1:c.2928del	NP_001369630.1:p.Trp976CysfsTer12
NM_001382702.1:c.1395del	NP_001369631.1:p.Trp465CysfsTer12
NR_168483.1:n.2158del