Canonical Allele Identifier: CA773967149

Gene: ACE

Linked Data

• dbSNP Id: rs1482032796
• MyVariant Identifiers: chr17:g.61566063del (hg19) ; chr17:g.63488702del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488704del , CM000679.2:g.63488704del	GRCh38
NC_000017.10:g.61566065del , CM000679.1:g.61566065del	GRCh37
NC_000017.9:g.58919797del	NCBI36
NG_011648.1:g.16632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2362del MANE Select	ENSP00000290866.4:p.Glu788ArgfsTer?
ENST00000290863.10:c.640del	ENSP00000290863.6:p.Glu214ArgfsTer?
ENST00000290866.9:c.2362del	ENSP00000290866.4:p.Glu788ArgfsTer?
ENST00000413513.7:c.640del	ENSP00000392247.3:p.Glu214ArgfsTer?
ENST00000428043.5:c.2362del	ENSP00000397593.2:p.Glu788ArgfsTer?
ENST00000577647.2:c.640del	ENSP00000464149.1:p.Glu214ArgfsTer?
ENST00000578839.5:c.*432del	ENSP00000462110.2:n.*432del
ENST00000579204.1:c.621del	ENSP00000464629.1:n.621del
ENST00000579314.5:c.*91del	ENSP00000462599.1:n.*91del
ENST00000582005.5:c.*282del	ENSP00000462002.1:n.*282del
ENST00000582761.1:c.130del	ENSP00000462909.1:p.Glu44ArgfsTer?
ENST00000584865.5:n.308del
NM_000789.3:c.2362del	NP_000780.1:p.Glu788ArgfsTer?
NM_001178057.1:c.640del	NP_001171528.1:p.Glu214ArgfsTer?
NM_152830.2:c.640del	NP_690043.1:p.Glu214ArgfsTer?
XM_005257110.1:c.1813del	XP_005257167.1:p.Glu605ArgfsTer?
XM_006721737.2:c.700del	XP_006721800.2:p.Glu234ArgfsTer?
XM_006721737.3:c.700del	XP_006721800.2:p.Glu234ArgfsTer?
NM_000789.4:c.2362del MANE Select	NP_000780.1:p.Glu788ArgfsTer?
NM_001178057.2:c.640del	NP_001171528.1:p.Glu214ArgfsTer?
NM_152830.3:c.640del	NP_690043.1:p.Glu214ArgfsTer?
NM_001382700.1:c.1795del	NP_001369629.1:p.Glu599ArgfsTer?
NM_001382701.1:c.1510del	NP_001369630.1:p.Glu504ArgfsTer?
NM_001382702.1:c.292del	NP_001369631.1:p.Glu98ArgfsTer?
NR_168483.1:n.740del