Canonical Allele Identifier: CA8699636
Gene: ACE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 235330
ClinVar RCV Id: RCV000224410
dbSNP Id: rs771053807

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63483879_63483884dup , CM000679.2:g.63483879_63483884dup GRCh38
NC_000017.10:g.61561240_61561245dup , CM000679.1:g.61561240_61561245dup GRCh37
NC_000017.9:g.58914972_58914977dup NCBI36
NG_011648.1:g.11807_11812dup

Transcript Alleles

HGVS Amino-acid change
NM_000789.3:c.1617_1622dup VV NP_000780.1:p.Phe540_His541insGlnPhe
XM_005257110.1:c.1068_1073dup XP_005257167.1:p.Phe357_His358insGlnPhe
NM_000789.4:c.1617_1622dup VV MANE Preferred
ENST00000290866.9:c.1617_1622dup ENSP00000290866.4:p.Phe540_His541insGlnPh...
ENST00000428043.5:c.1617_1622dup ENSP00000397593.2:p.Phe540_His541insGlnPh...
ENST00000582678.5:c.*1016_*1021dup ENSP00000462995.1:p.=