Canonical Allele Identifier: CA2269945075
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63487027_63487037delinsGGCCACTGTGT , CM000679.2:g.63487027_63487037delinsGGCCACTGTGT GRCh38
NC_000017.10:g.61564388_61564398delinsGGCCACTGTGT , CM000679.1:g.61564388_61564398delinsGGCCACTGTGT GRCh37
NC_000017.9:g.58918120_58918130delinsGGCCACTGTGT NCBI36
NG_011648.1:g.14955_14965delinsGGCCACTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.2259_2269delinsGGCCACTGTGT MANE Select ENSP00000290866.4:p.Val753=
ENST00000290863.10:c.537_547delinsGGCCACTGTGT ENSP00000290863.6:p.Val179=
ENST00000290866.9:c.2259_2269delinsGGCCACTGTGT ENSP00000290866.4:p.Val753=
ENST00000413513.7:c.537_547delinsGGCCACTGTGT ENSP00000392247.3:p.Val179=
ENST00000428043.5:c.2259_2269delinsGGCCACTGTGT ENSP00000397593.2:p.Val753=
ENST00000577647.2:c.537_547delinsGGCCACTGTGT ENSP00000464149.1:p.Val179=
ENST00000578839.5:c.*329_*339delinsGGCCACTGTGT ENSP00000462110.2:n.*329_*339delinsGGCCACTGTGT
ENST00000579204.1:c.440_450delinsGGCCACTGTGT ENSP00000464629.1:n.440_450delinsGGCCACTGTGT
ENST00000579314.5:c.537_547delinsGGCCACTGTGT ENSP00000462599.1:p.Val179=
ENST00000579726.5:c.821_831delinsGGCCACTGTGT
ENST00000582005.5:c.*179_*189delinsGGCCACTGTGT ENSP00000462002.1:n.*179_*189delinsGGCCACTGTGT
ENST00000582761.1:c.27_37delinsGGCCACTGTGT ENSP00000462909.1:p.Val9=
ENST00000584865.5:n.205_215delinsGGCCACTGTGT
NM_000789.3:c.2259_2269delinsGGCCACTGTGT NP_000780.1:p.Val753=
NM_001178057.1:c.537_547delinsGGCCACTGTGT NP_001171528.1:p.Val179=
NM_152830.2:c.537_547delinsGGCCACTGTGT NP_690043.1:p.Val179=
XM_005257110.1:c.1710_1720delinsGGCCACTGTGT XP_005257167.1:p.Val570=
XM_006721737.2:c.597_607delinsGGCCACTGTGT XP_006721800.2:p.Val199=
XM_006721737.3:c.597_607delinsGGCCACTGTGT XP_006721800.2:p.Val199=
NM_000789.4:c.2259_2269delinsGGCCACTGTGT MANE Select NP_000780.1:p.Val753=
NM_001178057.2:c.537_547delinsGGCCACTGTGT NP_001171528.1:p.Val179=
NM_152830.3:c.537_547delinsGGCCACTGTGT NP_690043.1:p.Val179=
NM_001382700.1:c.1692_1702delinsGGCCACTGTGT NP_001369629.1:p.Val564=
NM_001382701.1:c.1407_1417delinsGGCCACTGTGT NP_001369630.1:p.Val469=
NM_001382702.1:c.189_199delinsGGCCACTGTGT NP_001369631.1:p.Val63=
NR_168483.1:n.559_569delinsGGCCACTGTGT