Canonical Allele Identifier: CA2269944927
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63486785_63486786delinsGC , CM000679.2:g.63486785_63486786delinsGC GRCh38
NC_000017.10:g.61564146_61564147delinsGC , CM000679.1:g.61564146_61564147delinsGC GRCh37
NC_000017.9:g.58917878_58917879delinsGC NCBI36
NG_011648.1:g.14713_14714delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.2217+70_2217+71delinsGC MANE Select ENSP00000290866.4:n.2217+70_2217+71delinsGC
ENST00000290863.10:c.495+70_495+71delinsGC ENSP00000290863.6:n.495+70_495+71delinsGC
ENST00000290866.9:c.2217+70_2217+71delinsGC ENSP00000290866.4:n.2217+70_2217+71delinsGC
ENST00000413513.7:c.495+70_495+71delinsGC ENSP00000392247.3:n.495+70_495+71delinsGC
ENST00000428043.5:c.2217+70_2217+71delinsGC ENSP00000397593.2:n.2217+70_2217+71delinsGC
ENST00000577647.2:c.495+70_495+71delinsGC ENSP00000464149.1:n.495+70_495+71delinsGC
ENST00000578839.5:c.*287+70_*287+71delinsGC ENSP00000462110.2:n.*287+70_*287+71delinsGC
ENST00000579204.1:c.398+70_398+71delinsGC ENSP00000464629.1:n.398+70_398+71delinsGC
ENST00000579314.5:c.495+70_495+71delinsGC ENSP00000462599.1:n.495+70_495+71delinsGC
ENST00000579726.5:c.779+70_779+71delinsGC
ENST00000582005.5:c.*137+70_*137+71delinsGC ENSP00000462002.1:n.*137+70_*137+71delinsGC
NM_000789.3:c.2217+70_2217+71delinsGC NP_000780.1:n.2217+70_2217+71delinsGC
NM_001178057.1:c.495+70_495+71delinsGC NP_001171528.1:n.495+70_495+71delinsGC
NM_152830.2:c.495+70_495+71delinsGC NP_690043.1:n.495+70_495+71delinsGC
XM_005257110.1:c.1668+70_1668+71delinsGC XP_005257167.1:n.1668+70_1668+71delinsGC
XM_006721737.2:c.555+70_555+71delinsGC XP_006721800.2:n.555+70_555+71delinsGC
XM_006721737.3:c.555+70_555+71delinsGC XP_006721800.2:n.555+70_555+71delinsGC
NM_000789.4:c.2217+70_2217+71delinsGC MANE Select NP_000780.1:n.2217+70_2217+71delinsGC
NM_001178057.2:c.495+70_495+71delinsGC NP_001171528.1:n.495+70_495+71delinsGC
NM_152830.3:c.495+70_495+71delinsGC NP_690043.1:n.495+70_495+71delinsGC
NM_001382700.1:c.1650+70_1650+71delinsGC NP_001369629.1:n.1650+70_1650+71delinsGC
NM_001382701.1:c.1365+70_1365+71delinsGC NP_001369630.1:n.1365+70_1365+71delinsGC
NM_001382702.1:c.147+70_147+71delinsGC NP_001369631.1:n.147+70_147+71delinsGC
NR_168483.1:n.517+70_517+71delinsGC