Canonical Allele Identifier: CA2838917476
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63482669dup , CM000679.2:g.63482669dup GRCh38
NC_000017.10:g.61560030dup , CM000679.1:g.61560030dup GRCh37
NC_000017.9:g.58913762dup NCBI36
NG_011648.1:g.10597dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.1322dup MANE Select ENSP00000290866.4:p.Asp441GlufsTer6
ENST00000290866.9:c.1322dup ENSP00000290866.4:p.Asp441GlufsTer6
ENST00000428043.5:c.1322dup ENSP00000397593.2:p.Asp441GlufsTer6
ENST00000582678.5:c.*721dup ENSP00000462995.1:n.*721dup
ENST00000584529.5:n.1356dup
NM_000789.3:c.1322dup NP_000780.1:p.Asp441GlufsTer6
XM_005257110.1:c.773dup XP_005257167.1:p.Asp258GlufsTer6
NM_000789.4:c.1322dup MANE Select NP_000780.1:p.Asp441GlufsTer6
NM_001382700.1:c.755dup NP_001369629.1:p.Asp252GlufsTer6
NM_001382701.1:c.470dup NP_001369630.1:p.Asp157GlufsTer6