Canonical Allele Identifier: CA919875948
Gene: ACE HGNC NCBI

Linked Data

dbSNP Id: rs1599136889

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63477684_63477687del , CM000679.2:g.63477684_63477687del GRCh38
NC_000017.10:g.61555045_61555048del , CM000679.1:g.61555045_61555048del GRCh37
NC_000017.9:g.58908777_58908780del NCBI36
NG_011648.1:g.5612_5615del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.250-247_250-244del MANE Select ENSP00000290866.4:n.250-247_250-244del
ENST00000290866.9:c.250-247_250-244del ENSP00000290866.4:n.250-247_250-244del
ENST00000428043.5:c.250-247_250-244del ENSP00000397593.2:n.250-247_250-244del
ENST00000579462.1:n.275-247_275-244del
ENST00000580318.1:n.192_195del
ENST00000582627.1:c.143_146del ENSP00000462280.1:p.Ile48ThrfsTer?
ENST00000582678.5:c.250-247_250-244del ENSP00000462995.1:n.250-247_250-244del
ENST00000583336.5:n.284-247_284-244del
ENST00000584529.5:n.284-247_284-244del
NM_000789.3:c.250-247_250-244del NP_000780.1:n.250-247_250-244del
XM_005257110.1:c.-206-247_-206-244del XP_005257167.1:n.-206-247_-206-244del
NM_000789.4:c.250-247_250-244del MANE Select NP_000780.1:n.250-247_250-244del
NM_001382700.1:c.15-247_15-244del NP_001369629.1:n.15-247_15-244del
NM_001382701.1:c.-365-247_-365-244del NP_001369630.1:n.-365-247_-365-244del