Canonical Allele Identifier: CA2639244181

Gene: ACE

Linked Data

• gnomAD v4: 17-63497327-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497331del , CM000679.2:g.63497331del	GRCh38
NC_000017.10:g.61574692del , CM000679.1:g.61574692del	GRCh37
NC_000017.9:g.58928424del	NCBI36
NG_011648.1:g.25259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3886del MANE Select	ENSP00000290866.4:p.Gln1296SerfsTer8
ENST00000290863.10:c.2164del	ENSP00000290863.6:p.Gln722SerfsTer8
ENST00000290866.9:c.3886del	ENSP00000290866.4:p.Gln1296SerfsTer8
ENST00000413513.7:c.2041del	ENSP00000392247.3:p.Gln681SerfsTer8
ENST00000428043.5:c.*308del	ENSP00000397593.2:n.*308del
ENST00000577647.2:c.1969+346del	ENSP00000464149.1:n.1969+346del
ENST00000578839.5:c.*1641del	ENSP00000462110.2:n.*1641del
ENST00000579314.5:c.*1615del	ENSP00000462599.1:n.*1615del
NM_000789.3:c.3886del	NP_000780.1:p.Gln1296SerfsTer8
NM_001178057.1:c.2041del	NP_001171528.1:p.Gln681SerfsTer8
NM_152830.2:c.2164del	NP_690043.1:p.Gln722SerfsTer8
XM_005257110.1:c.3337del	XP_005257167.1:p.Gln1113SerfsTer8
XM_006721737.2:c.2224del	XP_006721800.2:p.Gln742SerfsTer8
XM_006721737.3:c.2224del	XP_006721800.2:p.Gln742SerfsTer8
NM_000789.4:c.3886del MANE Select	NP_000780.1:p.Gln1296SerfsTer8
NM_001178057.2:c.2041del	NP_001171528.1:p.Gln681SerfsTer8
NM_152830.3:c.2164del	NP_690043.1:p.Gln722SerfsTer8
NM_001382700.1:c.3319del	NP_001369629.1:p.Gln1107SerfsTer8
NM_001382701.1:c.3034del	NP_001369630.1:p.Gln1012SerfsTer8
NM_001382702.1:c.1501del	NP_001369631.1:p.Gln501SerfsTer8
NR_168483.1:n.2264del