Canonical Allele Identifier: CA127779

Gene: ACE

Linked Data

• ClinVar Variation Id: 18064
• ClinVar RCV Id: RCV000019687
• dbSNP Id: rs387906576
• MyVariant Identifiers: chr17:g.61560027_61560030del (hg19) ; chr17:g.63482666_63482669del (hg38)
• PubMed: PMID:16116425

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482666_63482669del , CM000679.2:g.63482666_63482669del	GRCh38
NC_000017.10:g.61560027_61560030del , CM000679.1:g.61560027_61560030del	GRCh37
NC_000017.9:g.58913759_58913762del	NCBI36
NG_011648.1:g.10594_10597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1319_1322del MANE Select	ENSP00000290866.4:p.Leu440ProfsTer15
ENST00000290866.9:c.1319_1322del	ENSP00000290866.4:p.Leu440ProfsTer15
ENST00000428043.5:c.1319_1322del	ENSP00000397593.2:p.Leu440ProfsTer15
ENST00000582678.5:c.*718_*721del	ENSP00000462995.1:n.*718_*721del
ENST00000584529.5:n.1353_1356del
NM_000789.3:c.1319_1322del	NP_000780.1:p.Leu440ProfsTer15
XM_005257110.1:c.770_773del	XP_005257167.1:p.Leu257ProfsTer15
NM_000789.4:c.1319_1322del MANE Select	NP_000780.1:p.Leu440ProfsTer15
NM_001382700.1:c.752_755del	NP_001369629.1:p.Leu251ProfsTer15
NM_001382701.1:c.467_470del	NP_001369630.1:p.Leu156ProfsTer15