Canonical Allele Identifier: CA2639263344

Gene: ACE

Linked Data

• gnomAD v4: 17-63487053-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487054del , CM000679.2:g.63487054del	GRCh38
NC_000017.10:g.61564415del , CM000679.1:g.61564415del	GRCh37
NC_000017.9:g.58918147del	NCBI36
NG_011648.1:g.14982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2286del MANE Select	ENSP00000290866.4:p.Cys763AlafsTer8
ENST00000290863.10:c.564del	ENSP00000290863.6:p.Cys189AlafsTer8
ENST00000290866.9:c.2286del	ENSP00000290866.4:p.Cys763AlafsTer8
ENST00000413513.7:c.564del	ENSP00000392247.3:p.Cys189AlafsTer8
ENST00000428043.5:c.2286del	ENSP00000397593.2:p.Cys763AlafsTer8
ENST00000577647.2:c.564del	ENSP00000464149.1:p.Cys189AlafsTer8
ENST00000578839.5:c.*356del	ENSP00000462110.2:n.*356del
ENST00000579204.1:c.467del	ENSP00000464629.1:n.467del
ENST00000579314.5:c.564del	ENSP00000462599.1:p.Cys189AlafsTer8
ENST00000579726.5:c.848del
ENST00000582005.5:c.*206del	ENSP00000462002.1:n.*206del
ENST00000582761.1:c.54del	ENSP00000462909.1:p.Cys19AlafsTer8
ENST00000584865.5:n.232del
NM_000789.3:c.2286del	NP_000780.1:p.Cys763AlafsTer8
NM_001178057.1:c.564del	NP_001171528.1:p.Cys189AlafsTer8
NM_152830.2:c.564del	NP_690043.1:p.Cys189AlafsTer8
XM_005257110.1:c.1737del	XP_005257167.1:p.Cys580AlafsTer8
XM_006721737.2:c.624del	XP_006721800.2:p.Cys209AlafsTer8
XM_006721737.3:c.624del	XP_006721800.2:p.Cys209AlafsTer8
NM_000789.4:c.2286del MANE Select	NP_000780.1:p.Cys763AlafsTer8
NM_001178057.2:c.564del	NP_001171528.1:p.Cys189AlafsTer8
NM_152830.3:c.564del	NP_690043.1:p.Cys189AlafsTer8
NM_001382700.1:c.1719del	NP_001369629.1:p.Cys574AlafsTer8
NM_001382701.1:c.1434del	NP_001369630.1:p.Cys479AlafsTer8
NM_001382702.1:c.216del	NP_001369631.1:p.Cys73AlafsTer8
NR_168483.1:n.586del