Canonical Allele Identifier: CA2269949086
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63495348_63495368delinsGCTACAGGTAGCCCAGGCCAC , CM000679.2:g.63495348_63495368delinsGCTACAGGTAGCCCAGGCCAC GRCh38
NC_000017.10:g.61572709_61572729delinsGCTACAGGTAGCCCAGGCCAC , CM000679.1:g.61572709_61572729delinsGCTACAGGTAGCCCAGGCCAC GRCh37
NC_000017.9:g.58926441_58926461delinsGCTACAGGTAGCCCAGGCCAC NCBI36
NG_011648.1:g.23276_23296delinsGCTACAGGTAGCCCAGGCCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3380+878_3380+898delinsGCTACAGGTAGCCCAGGCCAC MANE Select ENSP00000290866.4:n.3380+878_3380+898delinsGCTACAGGTAGCCCAGGC...
ENST00000290863.10:c.1658+878_1658+898delinsGCTACAGGTAGCCCAGGCCAC ENSP00000290863.6:n.1658+878_1658+898delinsGCTACAGGTAGCCCAGGC...
ENST00000290866.9:c.3380+878_3380+898delinsGCTACAGGTAGCCCAGGCCAC ENSP00000290866.4:n.3380+878_3380+898delinsGCTACAGGTAGCCCAGGC...
ENST00000413513.7:c.1658+878_1658+898delinsGCTACAGGTAGCCCAGGCCAC ENSP00000392247.3:n.1658+878_1658+898delinsGCTACAGGTAGCCCAGGC...
ENST00000428043.5:c.3380+878_3380+898delinsGCTACAGGTAGCCCAGGCCAC ENSP00000397593.2:n.3380+878_3380+898delinsGCTACAGGTAGCCCAGGC...
ENST00000577418.5:n.390+878_390+898delinsGCTACAGGTAGCCCAGGCCAC
ENST00000577647.2:c.1658+878_1658+898delinsGCTACAGGTAGCCCAGGCCAC ENSP00000464149.1:n.1658+878_1658+898delinsGCTACAGGTAGCCCAGGC...
ENST00000578839.5:c.*1258+878_*1258+898delinsGCTACAGGTAGCCCAGGCCAC ENSP00000462110.2:n.*1258+878_*1258+898delinsGCTACAGGTAGCCCAG...
ENST00000579314.5:c.*1109+878_*1109+898delinsGCTACAGGTAGCCCAGGCCAC ENSP00000462599.1:n.*1109+878_*1109+898delinsGCTACAGGTAGCCCAG...
ENST00000579409.1:c.67+878_67+898delinsGCTACAGGTAGCCCAGGCCAC
NM_000789.3:c.3380+878_3380+898delinsGCTACAGGTAGCCCAGGCCAC NP_000780.1:n.3380+878_3380+898delinsGCTACAGGTAGCCCAGGCCAC
NM_001178057.1:c.1658+878_1658+898delinsGCTACAGGTAGCCCAGGCCAC NP_001171528.1:n.1658+878_1658+898delinsGCTACAGGTAGCCCAGGCCAC...
NM_152830.2:c.1658+878_1658+898delinsGCTACAGGTAGCCCAGGCCAC NP_690043.1:n.1658+878_1658+898delinsGCTACAGGTAGCCCAGGCCAC
XM_005257110.1:c.2831+878_2831+898delinsGCTACAGGTAGCCCAGGCCAC XP_005257167.1:n.2831+878_2831+898delinsGCTACAGGTAGCCCAGGCCAC...
XM_006721737.2:c.1718+878_1718+898delinsGCTACAGGTAGCCCAGGCCAC XP_006721800.2:n.1718+878_1718+898delinsGCTACAGGTAGCCCAGGCCAC...
XM_006721737.3:c.1718+878_1718+898delinsGCTACAGGTAGCCCAGGCCAC XP_006721800.2:n.1718+878_1718+898delinsGCTACAGGTAGCCCAGGCCAC...
NM_000789.4:c.3380+878_3380+898delinsGCTACAGGTAGCCCAGGCCAC MANE Select NP_000780.1:n.3380+878_3380+898delinsGCTACAGGTAGCCCAGGCCAC
NM_001178057.2:c.1658+878_1658+898delinsGCTACAGGTAGCCCAGGCCAC NP_001171528.1:n.1658+878_1658+898delinsGCTACAGGTAGCCCAGGCCAC...
NM_152830.3:c.1658+878_1658+898delinsGCTACAGGTAGCCCAGGCCAC NP_690043.1:n.1658+878_1658+898delinsGCTACAGGTAGCCCAGGCCAC
NM_001382700.1:c.2813+878_2813+898delinsGCTACAGGTAGCCCAGGCCAC NP_001369629.1:n.2813+878_2813+898delinsGCTACAGGTAGCCCAGGCCAC...
NM_001382701.1:c.2528+878_2528+898delinsGCTACAGGTAGCCCAGGCCAC NP_001369630.1:n.2528+878_2528+898delinsGCTACAGGTAGCCCAGGCCAC...
NM_001382702.1:c.1118+878_1118+898delinsGCTACAGGTAGCCCAGGCCAC NP_001369631.1:n.1118+878_1118+898delinsGCTACAGGTAGCCCAGGCCAC...
NR_168483.1:n.1758+878_1758+898delinsGCTACAGGTAGCCCAGGCCAC