Canonical Allele Identifier: CA2269945943

Gene: ACE

Linked Data

• dbSNP Id: rs2030154221
• gnomAD v4: 17-63488683-GAAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488684_63488687del , CM000679.2:g.63488684_63488687del	GRCh38
NC_000017.10:g.61566045_61566048del , CM000679.1:g.61566045_61566048del	GRCh37
NC_000017.9:g.58919777_58919780del	NCBI36
NG_011648.1:g.16612_16615del

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2342_2345del MANE Select	ENSP00000290866.4:p.Glu781AlafsTer?
ENST00000290863.10:c.620_623del	ENSP00000290863.6:p.Glu207AlafsTer?
ENST00000290866.9:c.2342_2345del	ENSP00000290866.4:p.Glu781AlafsTer?
ENST00000413513.7:c.620_623del	ENSP00000392247.3:p.Glu207AlafsTer?
ENST00000428043.5:c.2342_2345del	ENSP00000397593.2:p.Glu781AlafsTer?
ENST00000577647.2:c.620_623del	ENSP00000464149.1:p.Glu207AlafsTer?
ENST00000578839.5:c.*412_*415del	ENSP00000462110.2:n.*412_*415del
ENST00000579204.1:c.601_604del	ENSP00000464629.1:n.601_604del
ENST00000579314.5:c.*71_*74del	ENSP00000462599.1:n.*71_*74del
ENST00000582005.5:c.*262_*265del	ENSP00000462002.1:n.*262_*265del
ENST00000582761.1:c.110_113del	ENSP00000462909.1:p.Glu37AlafsTer?
ENST00000584865.5:n.288_291del
NM_000789.3:c.2342_2345del	NP_000780.1:p.Glu781AlafsTer?
NM_001178057.1:c.620_623del	NP_001171528.1:p.Glu207AlafsTer?
NM_152830.2:c.620_623del	NP_690043.1:p.Glu207AlafsTer?
XM_005257110.1:c.1793_1796del	XP_005257167.1:p.Glu598AlafsTer?
XM_006721737.2:c.680_683del	XP_006721800.2:p.Glu227AlafsTer?
XM_006721737.3:c.680_683del	XP_006721800.2:p.Glu227AlafsTer?
NM_000789.4:c.2342_2345del MANE Select	NP_000780.1:p.Glu781AlafsTer?
NM_001178057.2:c.620_623del	NP_001171528.1:p.Glu207AlafsTer?
NM_152830.3:c.620_623del	NP_690043.1:p.Glu207AlafsTer?
NM_001382700.1:c.1775_1778del	NP_001369629.1:p.Glu592AlafsTer?
NM_001382701.1:c.1490_1493del	NP_001369630.1:p.Glu497AlafsTer?
NM_001382702.1:c.272_275del	NP_001369631.1:p.Glu91AlafsTer?
NR_168483.1:n.720_723del