Canonical Allele Identifier: CA2269942625
Gene: ACE HGNC NCBI

Linked Data

dbSNP Id: rs2049727294
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63482532_63482533insT , CM000679.2:g.63482532_63482533insT GRCh38
NC_000017.10:g.61559893_61559894insT , CM000679.1:g.61559893_61559894insT GRCh37
NC_000017.9:g.58913625_58913626insT NCBI36
NG_011648.1:g.10460_10461insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.1185_1186insT MANE Select ENSP00000290866.4:p.Gln396SerfsTer23
ENST00000290866.9:c.1185_1186insT ENSP00000290866.4:p.Gln396SerfsTer23
ENST00000428043.5:c.1185_1186insT ENSP00000397593.2:p.Gln396SerfsTer23
ENST00000582678.5:c.*584_*585insT ENSP00000462995.1:n.*584_*585insT
ENST00000584529.5:n.1219_1220insT
NM_000789.3:c.1185_1186insT NP_000780.1:p.Gln396SerfsTer23
XM_005257110.1:c.636_637insT XP_005257167.1:p.Gln213SerfsTer23
NM_000789.4:c.1185_1186insT MANE Select NP_000780.1:p.Gln396SerfsTer23
NM_001382700.1:c.618_619insT NP_001369629.1:p.Gln207SerfsTer23
NM_001382701.1:c.333_334insT NP_001369630.1:p.Gln112SerfsTer23
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