Canonical Allele Identifier: CA891863073

Gene: ACE

Linked Data

• ClinVar Variation Id: 591679
• ClinVar RCV Id: RCV000722860 ; RCV002493301

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486690_63486691delinsTG , CM000679.2:g.63486690_63486691delinsTG	GRCh38
NC_000017.10:g.61564051_61564052delinsTG , CM000679.1:g.61564051_61564052delinsTG	GRCh37
NC_000017.9:g.58917783_58917784delinsTG	NCBI36
NG_011648.1:g.14618_14619delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2192_2193delinsTG MANE Select	ENSP00000290866.4:p.Ala731Val
ENST00000290863.10:c.470_471delinsTG	ENSP00000290863.6:p.Ala157Val
ENST00000290866.9:c.2192_2193delinsTG	ENSP00000290866.4:p.Ala731Val
ENST00000413513.7:c.470_471delinsTG	ENSP00000392247.3:p.Ala157Val
ENST00000428043.5:c.2192_2193delinsTG	ENSP00000397593.2:p.Ala731Val
ENST00000577647.2:c.470_471delinsTG	ENSP00000464149.1:p.Ala157Val
ENST00000578839.5:c.*262_*263delinsTG	ENSP00000462110.2:n.*262_*263delinsTG
ENST00000579204.1:c.373_374delinsTG	ENSP00000464629.1:n.373_374delinsTG
ENST00000579314.5:c.470_471delinsTG	ENSP00000462599.1:p.Ala157Val
ENST00000579726.5:c.754_755delinsTG
ENST00000582005.5:c.*112_*113delinsTG	ENSP00000462002.1:n.*112_*113delinsTG
NM_000789.3:c.2192_2193delinsTG	NP_000780.1:p.Ala731Val
NM_001178057.1:c.470_471delinsTG	NP_001171528.1:p.Ala157Val
NM_152830.2:c.470_471delinsTG	NP_690043.1:p.Ala157Val
XM_005257110.1:c.1643_1644delinsTG	XP_005257167.1:p.Ala548Val
XM_006721737.2:c.530_531delinsTG	XP_006721800.2:p.Ala177Val
XM_006721737.3:c.530_531delinsTG	XP_006721800.2:p.Ala177Val
NM_000789.4:c.2192_2193delinsTG MANE Select	NP_000780.1:p.Ala731Val
NM_001178057.2:c.470_471delinsTG	NP_001171528.1:p.Ala157Val
NM_152830.3:c.470_471delinsTG	NP_690043.1:p.Ala157Val
NM_001382700.1:c.1625_1626delinsTG	NP_001369629.1:p.Ala542Val
NM_001382701.1:c.1340_1341delinsTG	NP_001369630.1:p.Ala447Val
NM_001382702.1:c.122_123delinsTG	NP_001369631.1:p.Ala41Val
NR_168483.1:n.492_493delinsTG