Canonical Allele Identifier: CA2733905485

Gene: ACE

Linked Data

• dbSNP Id: rs2147555421

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488991del , CM000679.2:g.63488991del	GRCh38
NC_000017.10:g.61566352del , CM000679.1:g.61566352del	GRCh37
NC_000017.9:g.58920084del	NCBI36
NG_011648.1:g.16919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2500del MANE Select	ENSP00000290866.4:p.Leu834TrpfsTer?
ENST00000290863.10:c.778del	ENSP00000290863.6:p.Leu260TrpfsTer?
ENST00000290866.9:c.2500del	ENSP00000290866.4:p.Leu834TrpfsTer?
ENST00000413513.7:c.778del	ENSP00000392247.3:p.Leu260TrpfsTer?
ENST00000428043.5:c.2500del	ENSP00000397593.2:p.Leu834TrpfsTer?
ENST00000577647.2:c.778del	ENSP00000464149.1:p.Leu260TrpfsTer?
ENST00000578839.5:c.*519+200del	ENSP00000462110.2:n.*519+200del
ENST00000579204.1:c.759del	ENSP00000464629.1:n.759del
ENST00000579314.5:c.*229del	ENSP00000462599.1:n.*229del
ENST00000582005.5:c.*420del	ENSP00000462002.1:n.*420del
ENST00000582761.1:c.268del	ENSP00000462909.1:p.Leu90TrpfsTer?
ENST00000584865.5:n.446del
NM_000789.3:c.2500del	NP_000780.1:p.Leu834TrpfsTer?
NM_001178057.1:c.778del	NP_001171528.1:p.Leu260TrpfsTer?
NM_152830.2:c.778del	NP_690043.1:p.Leu260TrpfsTer?
XM_005257110.1:c.1951del	XP_005257167.1:p.Leu651TrpfsTer?
XM_006721737.2:c.838del	XP_006721800.2:p.Leu280TrpfsTer?
XM_006721737.3:c.838del	XP_006721800.2:p.Leu280TrpfsTer?
NM_000789.4:c.2500del MANE Select	NP_000780.1:p.Leu834TrpfsTer?
NM_001178057.2:c.778del	NP_001171528.1:p.Leu260TrpfsTer?
NM_152830.3:c.778del	NP_690043.1:p.Leu260TrpfsTer?
NM_001382700.1:c.1933del	NP_001369629.1:p.Leu645TrpfsTer?
NM_001382701.1:c.1648del	NP_001369630.1:p.Leu550TrpfsTer?
NM_001382702.1:c.379+200del	NP_001369631.1:n.379+200del
NR_168483.1:n.878del