Canonical Allele Identifier: CA2576350518

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497296_63497298del , CM000679.2:g.63497296_63497298del	GRCh38
NC_000017.10:g.61574657_61574659del , CM000679.1:g.61574657_61574659del	GRCh37
NC_000017.9:g.58928389_58928391del	NCBI36
NG_011648.1:g.25224_25226del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3851_3853del MANE Select	ENSP00000290866.4:p.Arg1284del
ENST00000290863.10:c.2129_2131del	ENSP00000290863.6:p.Arg710del
ENST00000290866.9:c.3851_3853del	ENSP00000290866.4:p.Arg1284del
ENST00000413513.7:c.2006_2008del	ENSP00000392247.3:p.Arg669del
ENST00000428043.5:c.*273_*275del	ENSP00000397593.2:n.*273_*275del
ENST00000577647.2:c.1969+311_1969+313del	ENSP00000464149.1:n.1969+311_1969+313del
ENST00000578839.5:c.*1606_*1608del	ENSP00000462110.2:n.*1606_*1608del
ENST00000579314.5:c.*1580_*1582del	ENSP00000462599.1:n.*1580_*1582del
NM_000789.3:c.3851_3853del	NP_000780.1:p.Arg1284del
NM_001178057.1:c.2006_2008del	NP_001171528.1:p.Arg669del
NM_152830.2:c.2129_2131del	NP_690043.1:p.Arg710del
XM_005257110.1:c.3302_3304del	XP_005257167.1:p.Arg1101del
XM_006721737.2:c.2189_2191del	XP_006721800.2:p.Arg730del
XM_006721737.3:c.2189_2191del	XP_006721800.2:p.Arg730del
NM_000789.4:c.3851_3853del MANE Select	NP_000780.1:p.Arg1284del
NM_001178057.2:c.2006_2008del	NP_001171528.1:p.Arg669del
NM_152830.3:c.2129_2131del	NP_690043.1:p.Arg710del
NM_001382700.1:c.3284_3286del	NP_001369629.1:p.Arg1095del
NM_001382701.1:c.2999_3001del	NP_001369630.1:p.Arg1000del
NM_001382702.1:c.1466_1468del	NP_001369631.1:p.Arg489del
NR_168483.1:n.2229_2231del