Canonical Allele Identifier: CA2552938515
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63495042_63495062del , CM000679.2:g.63495042_63495062del GRCh38
NC_000017.10:g.61572403_61572423del , CM000679.1:g.61572403_61572423del GRCh37
NC_000017.9:g.58926135_58926155del NCBI36
NG_011648.1:g.22970_22990del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3380+572_3380+592del MANE Select ENSP00000290866.4:n.3380+572_3380+592del
ENST00000290863.10:c.1658+572_1658+592del ENSP00000290863.6:n.1658+572_1658+592del
ENST00000290866.9:c.3380+572_3380+592del ENSP00000290866.4:n.3380+572_3380+592del
ENST00000413513.7:c.1658+572_1658+592del ENSP00000392247.3:n.1658+572_1658+592del
ENST00000428043.5:c.3380+572_3380+592del ENSP00000397593.2:n.3380+572_3380+592del
ENST00000577418.5:n.390+572_390+592del
ENST00000577647.2:c.1658+572_1658+592del ENSP00000464149.1:n.1658+572_1658+592del
ENST00000578839.5:c.*1258+572_*1258+592del ENSP00000462110.2:n.*1258+572_*1258+592del
ENST00000579314.5:c.*1109+572_*1109+592del ENSP00000462599.1:n.*1109+572_*1109+592del
ENST00000579409.1:c.67+572_67+592del
NM_000789.3:c.3380+572_3380+592del NP_000780.1:n.3380+572_3380+592del
NM_001178057.1:c.1658+572_1658+592del NP_001171528.1:n.1658+572_1658+592del
NM_152830.2:c.1658+572_1658+592del NP_690043.1:n.1658+572_1658+592del
XM_005257110.1:c.2831+572_2831+592del XP_005257167.1:n.2831+572_2831+592del
XM_006721737.2:c.1718+572_1718+592del XP_006721800.2:n.1718+572_1718+592del
XM_006721737.3:c.1718+572_1718+592del XP_006721800.2:n.1718+572_1718+592del
NM_000789.4:c.3380+572_3380+592del MANE Select NP_000780.1:n.3380+572_3380+592del
NM_001178057.2:c.1658+572_1658+592del NP_001171528.1:n.1658+572_1658+592del
NM_152830.3:c.1658+572_1658+592del NP_690043.1:n.1658+572_1658+592del
NM_001382700.1:c.2813+572_2813+592del NP_001369629.1:n.2813+572_2813+592del
NM_001382701.1:c.2528+572_2528+592del NP_001369630.1:n.2528+572_2528+592del
NM_001382702.1:c.1118+572_1118+592del NP_001369631.1:n.1118+572_1118+592del
NR_168483.1:n.1758+572_1758+592del