Canonical Allele Identifier: CA2269950676
Gene: ACE HGNC NCBI

Linked Data

dbSNP Id: rs2030904524

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63498339_63498340del , CM000679.2:g.63498339_63498340del GRCh38
NC_000017.10:g.61575700_61575701del , CM000679.1:g.61575700_61575701del GRCh37
NC_000017.9:g.58929432_58929433del NCBI36
NG_011648.1:g.26267_26268del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.*973_*974del MANE Select ENSP00000290866.4:n.*973_*974del
ENST00000290866.9:c.*973_*974del ENSP00000290866.4:n.*973_*974del
ENST00000428043.5:c.*1316_*1317del ENSP00000397593.2:n.*1316_*1317del
ENST00000577647.2:c.1969+1354_1969+1355del ENSP00000464149.1:n.1969+1354_1969+1355del
NM_000789.3:c.*973_*974del NP_000780.1:n.*973_*974del
NM_001178057.1:c.*973_*974del NP_001171528.1:n.*973_*974del
NM_152830.2:c.*973_*974del NP_690043.1:n.*973_*974del
XM_005257110.1:c.*973_*974del XP_005257167.1:n.*973_*974del
XM_006721737.2:c.*973_*974del XP_006721800.2:n.*973_*974del
NM_000789.4:c.*973_*974del MANE Select NP_000780.1:n.*973_*974del
NM_001178057.2:c.*973_*974del NP_001171528.1:n.*973_*974del
NM_152830.3:c.*973_*974del NP_690043.1:n.*973_*974del
NM_001382700.1:c.*973_*974del NP_001369629.1:n.*973_*974del
NM_001382701.1:c.*973_*974del NP_001369630.1:n.*973_*974del
NM_001382702.1:c.*973_*974del NP_001369631.1:n.*973_*974del
NR_168483.1:n.3272_3273del