Canonical Allele Identifier: CA8698937
Gene: ACE HGNC NCBI

Linked Data

ClinVar Variation Id: 2634506
ClinVar RCV Id: RCV003732570 RCV004552531
dbSNP Id: rs752411292
ExAC: 17:61554513 TTGCTGCTGCCG / T
gnomAD v2: 17-61554513-TTGCTGCTGCCG-T
gnomAD v3: 17-63477152-TTGCTGCTGCCG-T
gnomAD v4: 17-63477152-TTGCTGCTGCCG-T
MyVariant Identifiers: chr17:g.61554514_61554524del (hg19) chr17:g.63477153_63477163del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63477153_63477163del , CM000679.2:g.63477153_63477163del GRCh38
NC_000017.10:g.61554514_61554524del , CM000679.1:g.61554514_61554524del GRCh37
NC_000017.9:g.58908246_58908256del NCBI36
NG_011648.1:g.5081_5091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.59_69del MANE Select ENSP00000290866.4:p.Leu20SerfsTer19
ENST00000290866.9:c.59_69del ENSP00000290866.4:p.Leu20SerfsTer19
ENST00000428043.5:c.59_69del ENSP00000397593.2:p.Leu20SerfsTer19
ENST00000579462.1:n.84_94del
ENST00000582678.5:c.59_69del ENSP00000462995.1:p.Leu20SerfsTer19
ENST00000583336.5:n.93_103del
ENST00000584529.5:n.93_103del
NM_000789.3:c.59_69del NP_000780.1:p.Leu20SerfsTer19
XM_005257110.1:c.-397_-387del XP_005257167.1:n.-397_-387del
NM_000789.4:c.59_69del MANE Select NP_000780.1:p.Leu20SerfsTer19
NM_001382700.1:c.-177_-167del NP_001369629.1:n.-177_-167del
NM_001382701.1:c.-556_-546del NP_001369630.1:n.-556_-546del
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