Canonical Allele Identifier: CA2639263698

Gene: ACE

Linked Data

• gnomAD v4: 17-63488690-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488691del , CM000679.2:g.63488691del	GRCh38
NC_000017.10:g.61566052del , CM000679.1:g.61566052del	GRCh37
NC_000017.9:g.58919784del	NCBI36
NG_011648.1:g.16619del

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2349del MANE Select	ENSP00000290866.4:p.Leu784TyrfsTer?
ENST00000290863.10:c.627del	ENSP00000290863.6:p.Leu210TyrfsTer?
ENST00000290866.9:c.2349del	ENSP00000290866.4:p.Leu784TyrfsTer?
ENST00000413513.7:c.627del	ENSP00000392247.3:p.Leu210TyrfsTer?
ENST00000428043.5:c.2349del	ENSP00000397593.2:p.Leu784TyrfsTer?
ENST00000577647.2:c.627del	ENSP00000464149.1:p.Leu210TyrfsTer?
ENST00000578839.5:c.*419del	ENSP00000462110.2:n.*419del
ENST00000579204.1:c.608del	ENSP00000464629.1:n.608del
ENST00000579314.5:c.*78del	ENSP00000462599.1:n.*78del
ENST00000582005.5:c.*269del	ENSP00000462002.1:n.*269del
ENST00000582761.1:c.117del	ENSP00000462909.1:p.Leu40TyrfsTer?
ENST00000584865.5:n.295del
NM_000789.3:c.2349del	NP_000780.1:p.Leu784TyrfsTer?
NM_001178057.1:c.627del	NP_001171528.1:p.Leu210TyrfsTer?
NM_152830.2:c.627del	NP_690043.1:p.Leu210TyrfsTer?
XM_005257110.1:c.1800del	XP_005257167.1:p.Leu601TyrfsTer?
XM_006721737.2:c.687del	XP_006721800.2:p.Leu230TyrfsTer?
XM_006721737.3:c.687del	XP_006721800.2:p.Leu230TyrfsTer?
NM_000789.4:c.2349del MANE Select	NP_000780.1:p.Leu784TyrfsTer?
NM_001178057.2:c.627del	NP_001171528.1:p.Leu210TyrfsTer?
NM_152830.3:c.627del	NP_690043.1:p.Leu210TyrfsTer?
NM_001382700.1:c.1782del	NP_001369629.1:p.Leu595TyrfsTer?
NM_001382701.1:c.1497del	NP_001369630.1:p.Leu500TyrfsTer?
NM_001382702.1:c.279del	NP_001369631.1:p.Leu94TyrfsTer?
NR_168483.1:n.727del