Canonical Allele Identifier: CA2695226804

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486660_63486661del , CM000679.2:g.63486660_63486661del	GRCh38
NC_000017.10:g.61564021_61564022del , CM000679.1:g.61564021_61564022del	GRCh37
NC_000017.9:g.58917753_58917754del	NCBI36
NG_011648.1:g.14588_14589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2162_2163del MANE Select	ENSP00000290866.4:p.Ile721LysfsTer?
ENST00000290863.10:c.440_441del	ENSP00000290863.6:p.Ile147LysfsTer?
ENST00000290866.9:c.2162_2163del	ENSP00000290866.4:p.Ile721LysfsTer?
ENST00000413513.7:c.440_441del	ENSP00000392247.3:p.Ile147LysfsTer?
ENST00000428043.5:c.2162_2163del	ENSP00000397593.2:p.Ile721LysfsTer?
ENST00000577647.2:c.440_441del	ENSP00000464149.1:p.Ile147LysfsTer?
ENST00000578839.5:c.*232_*233del	ENSP00000462110.2:n.*232_*233del
ENST00000579204.1:c.343_344del	ENSP00000464629.1:n.343_344del
ENST00000579314.5:c.440_441del	ENSP00000462599.1:p.Ile147LysfsTer?
ENST00000579726.5:c.724_725del
ENST00000582005.5:c.*82_*83del	ENSP00000462002.1:n.*82_*83del
NM_000789.3:c.2162_2163del	NP_000780.1:p.Ile721LysfsTer?
NM_001178057.1:c.440_441del	NP_001171528.1:p.Ile147LysfsTer?
NM_152830.2:c.440_441del	NP_690043.1:p.Ile147LysfsTer?
XM_005257110.1:c.1613_1614del	XP_005257167.1:p.Ile538LysfsTer?
XM_006721737.2:c.500_501del	XP_006721800.2:p.Ile167LysfsTer?
XM_006721737.3:c.500_501del	XP_006721800.2:p.Ile167LysfsTer?
NM_000789.4:c.2162_2163del MANE Select	NP_000780.1:p.Ile721LysfsTer?
NM_001178057.2:c.440_441del	NP_001171528.1:p.Ile147LysfsTer?
NM_152830.3:c.440_441del	NP_690043.1:p.Ile147LysfsTer?
NM_001382700.1:c.1595_1596del	NP_001369629.1:p.Ile532LysfsTer?
NM_001382701.1:c.1310_1311del	NP_001369630.1:p.Ile437LysfsTer?
NM_001382702.1:c.92_93del	NP_001369631.1:p.Ile31LysfsTer?
NR_168483.1:n.462_463del