Canonical Allele Identifier: CA2269950056

Gene: ACE

Linked Data

• dbSNP Id: rs2030826251

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497317_63497319del , CM000679.2:g.63497317_63497319del	GRCh38
NC_000017.10:g.61574678_61574680del , CM000679.1:g.61574678_61574680del	GRCh37
NC_000017.9:g.58928410_58928412del	NCBI36
NG_011648.1:g.25245_25247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3872_3874del MANE Select	ENSP00000290866.4:p.His1291_Ser1292delinsPro
ENST00000290863.10:c.2150_2152del	ENSP00000290863.6:p.His717_Ser718delinsPro
ENST00000290866.9:c.3872_3874del	ENSP00000290866.4:p.His1291_Ser1292delinsPro
ENST00000413513.7:c.2027_2029del	ENSP00000392247.3:p.His676_Ser677delinsPro
ENST00000428043.5:c.*294_*296del	ENSP00000397593.2:n.*294_*296del
ENST00000577647.2:c.1969+332_1969+334del	ENSP00000464149.1:n.1969+332_1969+334del
ENST00000578839.5:c.*1627_*1629del	ENSP00000462110.2:n.*1627_*1629del
ENST00000579314.5:c.*1601_*1603del	ENSP00000462599.1:n.*1601_*1603del
NM_000789.3:c.3872_3874del	NP_000780.1:p.His1291_Ser1292delinsPro
NM_001178057.1:c.2027_2029del	NP_001171528.1:p.His676_Ser677delinsPro
NM_152830.2:c.2150_2152del	NP_690043.1:p.His717_Ser718delinsPro
XM_005257110.1:c.3323_3325del	XP_005257167.1:p.His1108_Ser1109delinsPro
XM_006721737.2:c.2210_2212del	XP_006721800.2:p.His737_Ser738delinsPro
XM_006721737.3:c.2210_2212del	XP_006721800.2:p.His737_Ser738delinsPro
NM_000789.4:c.3872_3874del MANE Select	NP_000780.1:p.His1291_Ser1292delinsPro
NM_001178057.2:c.2027_2029del	NP_001171528.1:p.His676_Ser677delinsPro
NM_152830.3:c.2150_2152del	NP_690043.1:p.His717_Ser718delinsPro
NM_001382700.1:c.3305_3307del	NP_001369629.1:p.His1102_Ser1103delinsPro
NM_001382701.1:c.3020_3022del	NP_001369630.1:p.His1007_Ser1008delinsPro
NM_001382702.1:c.1487_1489del	NP_001369631.1:p.His496_Ser497delinsPro
NR_168483.1:n.2250_2252del