Canonical Allele Identifier: CA501187958

Gene: ACE

Linked Data

• dbSNP Id: rs1441728993
• gnomAD v4: 17-63488967-AG-A
• MyVariant Identifiers: chr17:g.61566329del (hg19) ; chr17:g.63488968del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488969del , CM000679.2:g.63488969del	GRCh38
NC_000017.10:g.61566330del , CM000679.1:g.61566330del	GRCh37
NC_000017.9:g.58920062del	NCBI36
NG_011648.1:g.16897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2478del MANE Select	ENSP00000290866.4:p.Arg826SerfsTer?
ENST00000290863.10:c.756del	ENSP00000290863.6:p.Arg252SerfsTer?
ENST00000290866.9:c.2478del	ENSP00000290866.4:p.Arg826SerfsTer?
ENST00000413513.7:c.756del	ENSP00000392247.3:p.Arg252SerfsTer?
ENST00000428043.5:c.2478del	ENSP00000397593.2:p.Arg826SerfsTer?
ENST00000577647.2:c.756del	ENSP00000464149.1:p.Arg252SerfsTer?
ENST00000578839.5:c.*519+178del	ENSP00000462110.2:n.*519+178del
ENST00000579204.1:c.737del	ENSP00000464629.1:n.737del
ENST00000579314.5:c.*207del	ENSP00000462599.1:n.*207del
ENST00000582005.5:c.*398del	ENSP00000462002.1:n.*398del
ENST00000582761.1:c.246del	ENSP00000462909.1:p.Arg82SerfsTer?
ENST00000584865.5:n.424del
NM_000789.3:c.2478del	NP_000780.1:p.Arg826SerfsTer?
NM_001178057.1:c.756del	NP_001171528.1:p.Arg252SerfsTer?
NM_152830.2:c.756del	NP_690043.1:p.Arg252SerfsTer?
XM_005257110.1:c.1929del	XP_005257167.1:p.Arg643SerfsTer?
XM_006721737.2:c.816del	XP_006721800.2:p.Arg272SerfsTer?
XM_006721737.3:c.816del	XP_006721800.2:p.Arg272SerfsTer?
NM_000789.4:c.2478del MANE Select	NP_000780.1:p.Arg826SerfsTer?
NM_001178057.2:c.756del	NP_001171528.1:p.Arg252SerfsTer?
NM_152830.3:c.756del	NP_690043.1:p.Arg252SerfsTer?
NM_001382700.1:c.1911del	NP_001369629.1:p.Arg637SerfsTer?
NM_001382701.1:c.1626del	NP_001369630.1:p.Arg542SerfsTer?
NM_001382702.1:c.379+178del	NP_001369631.1:n.379+178del
NR_168483.1:n.856del