Canonical Allele Identifier: CA2269948909
Gene: ACE HGNC NCBI

Linked Data

dbSNP Id: rs2030639190

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63494967_63494968del , CM000679.2:g.63494967_63494968del GRCh38
NC_000017.10:g.61572328_61572329del , CM000679.1:g.61572328_61572329del GRCh37
NC_000017.9:g.58926060_58926061del NCBI36
NG_011648.1:g.22895_22896del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3380+497_3380+498del MANE Select ENSP00000290866.4:n.3380+497_3380+498del
ENST00000290863.10:c.1658+497_1658+498del ENSP00000290863.6:n.1658+497_1658+498del
ENST00000290866.9:c.3380+497_3380+498del ENSP00000290866.4:n.3380+497_3380+498del
ENST00000413513.7:c.1658+497_1658+498del ENSP00000392247.3:n.1658+497_1658+498del
ENST00000428043.5:c.3380+497_3380+498del ENSP00000397593.2:n.3380+497_3380+498del
ENST00000577418.5:n.390+497_390+498del
ENST00000577647.2:c.1658+497_1658+498del ENSP00000464149.1:n.1658+497_1658+498del
ENST00000578839.5:c.*1258+497_*1258+498del ENSP00000462110.2:n.*1258+497_*1258+498del
ENST00000579314.5:c.*1109+497_*1109+498del ENSP00000462599.1:n.*1109+497_*1109+498del
ENST00000579409.1:c.67+497_67+498del
NM_000789.3:c.3380+497_3380+498del NP_000780.1:n.3380+497_3380+498del
NM_001178057.1:c.1658+497_1658+498del NP_001171528.1:n.1658+497_1658+498del
NM_152830.2:c.1658+497_1658+498del NP_690043.1:n.1658+497_1658+498del
XM_005257110.1:c.2831+497_2831+498del XP_005257167.1:n.2831+497_2831+498del
XM_006721737.2:c.1718+497_1718+498del XP_006721800.2:n.1718+497_1718+498del
XM_006721737.3:c.1718+497_1718+498del XP_006721800.2:n.1718+497_1718+498del
NM_000789.4:c.3380+497_3380+498del MANE Select NP_000780.1:n.3380+497_3380+498del
NM_001178057.2:c.1658+497_1658+498del NP_001171528.1:n.1658+497_1658+498del
NM_152830.3:c.1658+497_1658+498del NP_690043.1:n.1658+497_1658+498del
NM_001382700.1:c.2813+497_2813+498del NP_001369629.1:n.2813+497_2813+498del
NM_001382701.1:c.2528+497_2528+498del NP_001369630.1:n.2528+497_2528+498del
NM_001382702.1:c.1118+497_1118+498del NP_001369631.1:n.1118+497_1118+498del
NR_168483.1:n.1758+497_1758+498del