Canonical Allele Identifier: CA2639263221
Gene: ACE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63486838_63486839del , CM000679.2:g.63486838_63486839del GRCh38
NC_000017.10:g.61564199_61564200del , CM000679.1:g.61564199_61564200del GRCh37
NC_000017.9:g.58917931_58917932del NCBI36
NG_011648.1:g.14766_14767del

Transcript Alleles

HGVS Amino-acid change
ENST00000290866.10:c.2217+123_2217+124del MANE Select ENSP00000290866.4:n.2217+123_2217+124del
ENST00000290863.10:c.495+123_495+124del ENSP00000290863.6:n.495+123_495+124del
ENST00000290866.9:c.2217+123_2217+124del ENSP00000290866.4:n.2217+123_2217+124del
ENST00000413513.7:c.495+123_495+124del ENSP00000392247.3:n.495+123_495+124del
ENST00000428043.5:c.2217+123_2217+124del ENSP00000397593.2:n.2217+123_2217+124del
ENST00000577647.2:c.495+123_495+124del ENSP00000464149.1:n.495+123_495+124del
ENST00000578839.5:c.*287+123_*287+124del ENSP00000462110.2:n.*287+123_*287+124del
ENST00000579204.1:c.398+123_398+124del ENSP00000464629.1:n.398+123_398+124del
ENST00000579314.5:c.495+123_495+124del ENSP00000462599.1:n.495+123_495+124del
ENST00000579726.5:c.779+123_779+124del
ENST00000582005.5:c.*137+123_*137+124del ENSP00000462002.1:n.*137+123_*137+124del
ENST00000584865.5:n.16_17del
NM_000789.3:c.2217+123_2217+124del NP_000780.1:n.2217+123_2217+124del
NM_001178057.1:c.495+123_495+124del NP_001171528.1:n.495+123_495+124del
NM_152830.2:c.495+123_495+124del NP_690043.1:n.495+123_495+124del
XM_005257110.1:c.1668+123_1668+124del XP_005257167.1:n.1668+123_1668+124del
XM_006721737.2:c.555+123_555+124del XP_006721800.2:n.555+123_555+124del
XM_006721737.3:c.555+123_555+124del XP_006721800.2:n.555+123_555+124del
NM_000789.4:c.2217+123_2217+124del MANE Select NP_000780.1:n.2217+123_2217+124del
NM_001178057.2:c.495+123_495+124del NP_001171528.1:n.495+123_495+124del
NM_152830.3:c.495+123_495+124del NP_690043.1:n.495+123_495+124del
NM_001382700.1:c.1650+123_1650+124del NP_001369629.1:n.1650+123_1650+124del
NM_001382701.1:c.1365+123_1365+124del NP_001369630.1:n.1365+123_1365+124del
NM_001382702.1:c.147+123_147+124del NP_001369631.1:n.147+123_147+124del
NR_168483.1:n.517+123_517+124del