Canonical Allele Identifier: CA2733905595

Gene: ACE

Linked Data

• ClinVar Variation Id: 3041058
• ClinVar RCV Id: RCV004551025
• dbSNP Id: rs2147579230

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496991del , CM000679.2:g.63496991del	GRCh38
NC_000017.10:g.61574352del , CM000679.1:g.61574352del	GRCh37
NC_000017.9:g.58928084del	NCBI36
NG_011648.1:g.24919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3691+6del MANE Select	ENSP00000290866.4:n.3691+6del
ENST00000290863.10:c.1969+6del	ENSP00000290863.6:n.1969+6del
ENST00000290866.9:c.3691+6del	ENSP00000290866.4:n.3691+6del
ENST00000413513.7:c.1846+6del	ENSP00000392247.3:n.1846+6del
ENST00000428043.5:c.3697del	ENSP00000397593.2:p.Ala1233ProfsTer?
ENST00000577418.5:n.701+6del
ENST00000577647.2:c.1969+6del	ENSP00000464149.1:n.1969+6del
ENST00000578839.5:c.*1446+6del	ENSP00000462110.2:n.*1446+6del
ENST00000579314.5:c.*1420+6del	ENSP00000462599.1:n.*1420+6del
ENST00000579409.1:c.384del
NM_000789.3:c.3691+6del	NP_000780.1:n.3691+6del
NM_001178057.1:c.1846+6del	NP_001171528.1:n.1846+6del
NM_152830.2:c.1969+6del	NP_690043.1:n.1969+6del
XM_005257110.1:c.3142+6del	XP_005257167.1:n.3142+6del
XM_006721737.2:c.2029+6del	XP_006721800.2:n.2029+6del
XM_006721737.3:c.2029+6del	XP_006721800.2:n.2029+6del
NM_000789.4:c.3691+6del MANE Select	NP_000780.1:n.3691+6del
NM_001178057.2:c.1846+6del	NP_001171528.1:n.1846+6del
NM_152830.3:c.1969+6del	NP_690043.1:n.1969+6del
NM_001382700.1:c.3124+6del	NP_001369629.1:n.3124+6del
NM_001382701.1:c.2839+6del	NP_001369630.1:n.2839+6del
NM_001382702.1:c.1306+6del	NP_001369631.1:n.1306+6del
NR_168483.1:n.2069+6del