Canonical Allele Identifier: CA645593727

Gene: ACE

Linked Data

• COSMIC: COSM5853210 ; COSM5853211

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497190del , CM000679.2:g.63497190del	GRCh38
NC_000017.10:g.61574551del , CM000679.1:g.61574551del	GRCh37
NC_000017.9:g.58928283del	NCBI36
NG_011648.1:g.25118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3745del MANE Select	ENSP00000290866.4:p.Asp1249ThrfsTer23
ENST00000290863.10:c.2023del	ENSP00000290863.6:p.Asp675ThrfsTer23
ENST00000290866.9:c.3745del	ENSP00000290866.4:p.Asp1249ThrfsTer23
ENST00000413513.7:c.1900del	ENSP00000392247.3:p.Asp634ThrfsTer23
ENST00000428043.5:c.*167del	ENSP00000397593.2:n.*167del
ENST00000577647.2:c.1969+205del	ENSP00000464149.1:n.1969+205del
ENST00000578839.5:c.*1500del	ENSP00000462110.2:n.*1500del
ENST00000579314.5:c.*1474del	ENSP00000462599.1:n.*1474del
NM_000789.3:c.3745del	NP_000780.1:p.Asp1249ThrfsTer23
NM_001178057.1:c.1900del	NP_001171528.1:p.Asp634ThrfsTer23
NM_152830.2:c.2023del	NP_690043.1:p.Asp675ThrfsTer23
XM_005257110.1:c.3196del	XP_005257167.1:p.Asp1066ThrfsTer23
XM_006721737.2:c.2083del	XP_006721800.2:p.Asp695ThrfsTer23
XM_006721737.3:c.2083del	XP_006721800.2:p.Asp695ThrfsTer23
NM_000789.4:c.3745del MANE Select	NP_000780.1:p.Asp1249ThrfsTer23
NM_001178057.2:c.1900del	NP_001171528.1:p.Asp634ThrfsTer23
NM_152830.3:c.2023del	NP_690043.1:p.Asp675ThrfsTer23
NM_001382700.1:c.3178del	NP_001369629.1:p.Asp1060ThrfsTer23
NM_001382701.1:c.2893del	NP_001369630.1:p.Asp965ThrfsTer23
NM_001382702.1:c.1360del	NP_001369631.1:p.Asp454ThrfsTer23
NR_168483.1:n.2123del