Canonical Allele Identifier: CA2269944940
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63486805_63486806delinsTC , CM000679.2:g.63486805_63486806delinsTC GRCh38
NC_000017.10:g.61564166_61564167delinsTC , CM000679.1:g.61564166_61564167delinsTC GRCh37
NC_000017.9:g.58917898_58917899delinsTC NCBI36
NG_011648.1:g.14733_14734delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.2217+90_2217+91delinsTC MANE Select ENSP00000290866.4:n.2217+90_2217+91delinsTC
ENST00000290863.10:c.495+90_495+91delinsTC ENSP00000290863.6:n.495+90_495+91delinsTC
ENST00000290866.9:c.2217+90_2217+91delinsTC ENSP00000290866.4:n.2217+90_2217+91delinsTC
ENST00000413513.7:c.495+90_495+91delinsTC ENSP00000392247.3:n.495+90_495+91delinsTC
ENST00000428043.5:c.2217+90_2217+91delinsTC ENSP00000397593.2:n.2217+90_2217+91delinsTC
ENST00000577647.2:c.495+90_495+91delinsTC ENSP00000464149.1:n.495+90_495+91delinsTC
ENST00000578839.5:c.*287+90_*287+91delinsTC ENSP00000462110.2:n.*287+90_*287+91delinsTC
ENST00000579204.1:c.398+90_398+91delinsTC ENSP00000464629.1:n.398+90_398+91delinsTC
ENST00000579314.5:c.495+90_495+91delinsTC ENSP00000462599.1:n.495+90_495+91delinsTC
ENST00000579726.5:c.779+90_779+91delinsTC
ENST00000582005.5:c.*137+90_*137+91delinsTC ENSP00000462002.1:n.*137+90_*137+91delinsTC
NM_000789.3:c.2217+90_2217+91delinsTC NP_000780.1:n.2217+90_2217+91delinsTC
NM_001178057.1:c.495+90_495+91delinsTC NP_001171528.1:n.495+90_495+91delinsTC
NM_152830.2:c.495+90_495+91delinsTC NP_690043.1:n.495+90_495+91delinsTC
XM_005257110.1:c.1668+90_1668+91delinsTC XP_005257167.1:n.1668+90_1668+91delinsTC
XM_006721737.2:c.555+90_555+91delinsTC XP_006721800.2:n.555+90_555+91delinsTC
XM_006721737.3:c.555+90_555+91delinsTC XP_006721800.2:n.555+90_555+91delinsTC
NM_000789.4:c.2217+90_2217+91delinsTC MANE Select NP_000780.1:n.2217+90_2217+91delinsTC
NM_001178057.2:c.495+90_495+91delinsTC NP_001171528.1:n.495+90_495+91delinsTC
NM_152830.3:c.495+90_495+91delinsTC NP_690043.1:n.495+90_495+91delinsTC
NM_001382700.1:c.1650+90_1650+91delinsTC NP_001369629.1:n.1650+90_1650+91delinsTC
NM_001382701.1:c.1365+90_1365+91delinsTC NP_001369630.1:n.1365+90_1365+91delinsTC
NM_001382702.1:c.147+90_147+91delinsTC NP_001369631.1:n.147+90_147+91delinsTC
NR_168483.1:n.517+90_517+91delinsTC