Canonical Allele Identifier: CA2269944859

Gene: ACE

Linked Data

• dbSNP Id: rs1599146217

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486639del , CM000679.2:g.63486639del	GRCh38
NC_000017.10:g.61564000del , CM000679.1:g.61564000del	GRCh37
NC_000017.9:g.58917732del	NCBI36
NG_011648.1:g.14567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2141del MANE Select	ENSP00000290866.4:p.Asn714ThrfsTer8
ENST00000290863.10:c.419del	ENSP00000290863.6:p.Asn140ThrfsTer8
ENST00000290866.9:c.2141del	ENSP00000290866.4:p.Asn714ThrfsTer8
ENST00000413513.7:c.419del	ENSP00000392247.3:p.Asn140ThrfsTer8
ENST00000428043.5:c.2141del	ENSP00000397593.2:p.Asn714ThrfsTer8
ENST00000577647.2:c.419del	ENSP00000464149.1:p.Asn140ThrfsTer8
ENST00000578839.5:c.*211del	ENSP00000462110.2:n.*211del
ENST00000579204.1:c.322del	ENSP00000464629.1:n.322del
ENST00000579314.5:c.419del	ENSP00000462599.1:p.Asn140ThrfsTer8
ENST00000579726.5:c.703del
ENST00000582005.5:c.*61del	ENSP00000462002.1:n.*61del
NM_000789.3:c.2141del	NP_000780.1:p.Asn714ThrfsTer8
NM_001178057.1:c.419del	NP_001171528.1:p.Asn140ThrfsTer8
NM_152830.2:c.419del	NP_690043.1:p.Asn140ThrfsTer8
XM_005257110.1:c.1592del	XP_005257167.1:p.Asn531ThrfsTer8
XM_006721737.2:c.479del	XP_006721800.2:p.Asn160ThrfsTer8
XM_006721737.3:c.479del	XP_006721800.2:p.Asn160ThrfsTer8
NM_000789.4:c.2141del MANE Select	NP_000780.1:p.Asn714ThrfsTer8
NM_001178057.2:c.419del	NP_001171528.1:p.Asn140ThrfsTer8
NM_152830.3:c.419del	NP_690043.1:p.Asn140ThrfsTer8
NM_001382700.1:c.1574del	NP_001369629.1:p.Asn525ThrfsTer8
NM_001382701.1:c.1289del	NP_001369630.1:p.Asn430ThrfsTer8
NM_001382702.1:c.71del	NP_001369631.1:p.Asn24ThrfsTer8
NR_168483.1:n.441del