Canonical Allele Identifier: CA2810114342

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486613del , CM000679.2:g.63486613del	GRCh38
NC_000017.10:g.61563974del , CM000679.1:g.61563974del	GRCh37
NC_000017.9:g.58917706del	NCBI36
NG_011648.1:g.14541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2115del MANE Select	ENSP00000290866.4:p.Lys706SerfsTer4
ENST00000290863.10:c.393del	ENSP00000290863.6:p.Lys132SerfsTer4
ENST00000290866.9:c.2115del	ENSP00000290866.4:p.Lys706SerfsTer4
ENST00000413513.7:c.393del	ENSP00000392247.3:p.Lys132SerfsTer4
ENST00000428043.5:c.2115del	ENSP00000397593.2:p.Lys706SerfsTer4
ENST00000577647.2:c.393del	ENSP00000464149.1:p.Lys132SerfsTer4
ENST00000578839.5:c.*185del	ENSP00000462110.2:n.*185del
ENST00000579204.1:c.296del	ENSP00000464629.1:n.296del
ENST00000579314.5:c.393del	ENSP00000462599.1:p.Lys132SerfsTer4
ENST00000579726.5:c.677del
ENST00000582005.5:c.*35del	ENSP00000462002.1:n.*35del
NM_000789.3:c.2115del	NP_000780.1:p.Lys706SerfsTer4
NM_001178057.1:c.393del	NP_001171528.1:p.Lys132SerfsTer4
NM_152830.2:c.393del	NP_690043.1:p.Lys132SerfsTer4
XM_005257110.1:c.1566del	XP_005257167.1:p.Lys523SerfsTer4
XM_006721737.2:c.453del	XP_006721800.2:p.Lys152SerfsTer4
XM_006721737.3:c.453del	XP_006721800.2:p.Lys152SerfsTer4
NM_000789.4:c.2115del MANE Select	NP_000780.1:p.Lys706SerfsTer4
NM_001178057.2:c.393del	NP_001171528.1:p.Lys132SerfsTer4
NM_152830.3:c.393del	NP_690043.1:p.Lys132SerfsTer4
NM_001382700.1:c.1548del	NP_001369629.1:p.Lys517SerfsTer4
NM_001382701.1:c.1263del	NP_001369630.1:p.Lys422SerfsTer4
NM_001382702.1:c.45del	NP_001369631.1:p.Lys16SerfsTer4
NR_168483.1:n.415del