Canonical Allele Identifier: CA919876028

Gene: ACE

Linked Data

• dbSNP Id: rs1599146217

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2141dup MANE Select	ENSP00000290866.4:p.Asn714LysfsTer?
ENST00000290863.10:c.419dup	ENSP00000290863.6:p.Asn140LysfsTer?
ENST00000290866.9:c.2141dup	ENSP00000290866.4:p.Asn714LysfsTer?
ENST00000413513.7:c.419dup	ENSP00000392247.3:p.Asn140LysfsTer?
ENST00000428043.5:c.2141dup	ENSP00000397593.2:p.Asn714LysfsTer?
ENST00000577647.2:c.419dup	ENSP00000464149.1:p.Asn140LysfsTer?
ENST00000578839.5:c.*211dup	ENSP00000462110.2:n.*211dup
ENST00000579204.1:c.322dup	ENSP00000464629.1:n.322dup
ENST00000579314.5:c.419dup	ENSP00000462599.1:p.Asn140LysfsTer?
ENST00000579726.5:c.703dup
ENST00000582005.5:c.*61dup	ENSP00000462002.1:n.*61dup
NM_000789.3:c.2141dup	NP_000780.1:p.Asn714LysfsTer?
NM_001178057.1:c.419dup	NP_001171528.1:p.Asn140LysfsTer?
NM_152830.2:c.419dup	NP_690043.1:p.Asn140LysfsTer?
XM_005257110.1:c.1592dup	XP_005257167.1:p.Asn531LysfsTer?
XM_006721737.2:c.479dup	XP_006721800.2:p.Asn160LysfsTer?
XM_006721737.3:c.479dup	XP_006721800.2:p.Asn160LysfsTer?
NM_000789.4:c.2141dup MANE Select	NP_000780.1:p.Asn714LysfsTer?
NM_001178057.2:c.419dup	NP_001171528.1:p.Asn140LysfsTer?
NM_152830.3:c.419dup	NP_690043.1:p.Asn140LysfsTer?
NM_001382700.1:c.1574dup	NP_001369629.1:p.Asn525LysfsTer?
NM_001382701.1:c.1289dup	NP_001369630.1:p.Asn430LysfsTer?
NM_001382702.1:c.71dup	NP_001369631.1:p.Asn24LysfsTer?
NR_168483.1:n.441dup