Canonical Allele Identifier: CA985411614

Gene: ACE

Linked Data

• gnomAD v3: 17-63488655-GAATGTGATGGCCACGT-G
• gnomAD v4: 17-63488655-GAATGTGATGGCCACGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488656_63488671del , CM000679.2:g.63488656_63488671del	GRCh38
NC_000017.10:g.61566017_61566032del , CM000679.1:g.61566017_61566032del	GRCh37
NC_000017.9:g.58919749_58919764del	NCBI36
NG_011648.1:g.16584_16599del

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2314_2329del MANE Select	ENSP00000290866.4:p.Asn772ProfsTer?
ENST00000290863.10:c.592_607del	ENSP00000290863.6:p.Asn198ProfsTer?
ENST00000290866.9:c.2314_2329del	ENSP00000290866.4:p.Asn772ProfsTer?
ENST00000413513.7:c.592_607del	ENSP00000392247.3:p.Asn198ProfsTer?
ENST00000428043.5:c.2314_2329del	ENSP00000397593.2:p.Asn772ProfsTer?
ENST00000577647.2:c.592_607del	ENSP00000464149.1:p.Asn198ProfsTer?
ENST00000578839.5:c.*384_*399del	ENSP00000462110.2:n.*384_*399del
ENST00000579204.1:c.573_588del	ENSP00000464629.1:n.573_588del
ENST00000579314.5:c.*43_*58del	ENSP00000462599.1:n.*43_*58del
ENST00000582005.5:c.*234_*249del	ENSP00000462002.1:n.*234_*249del
ENST00000582761.1:c.82_97del	ENSP00000462909.1:p.Asn28ProfsTer?
ENST00000584865.5:n.260_275del
NM_000789.3:c.2314_2329del	NP_000780.1:p.Asn772ProfsTer?
NM_001178057.1:c.592_607del	NP_001171528.1:p.Asn198ProfsTer?
NM_152830.2:c.592_607del	NP_690043.1:p.Asn198ProfsTer?
XM_005257110.1:c.1765_1780del	XP_005257167.1:p.Asn589ProfsTer?
XM_006721737.2:c.652_667del	XP_006721800.2:p.Asn218ProfsTer?
XM_006721737.3:c.652_667del	XP_006721800.2:p.Asn218ProfsTer?
NM_000789.4:c.2314_2329del MANE Select	NP_000780.1:p.Asn772ProfsTer?
NM_001178057.2:c.592_607del	NP_001171528.1:p.Asn198ProfsTer?
NM_152830.3:c.592_607del	NP_690043.1:p.Asn198ProfsTer?
NM_001382700.1:c.1747_1762del	NP_001369629.1:p.Asn583ProfsTer?
NM_001382701.1:c.1462_1477del	NP_001369630.1:p.Asn488ProfsTer?
NM_001382702.1:c.244_259del	NP_001369631.1:p.Asn82ProfsTer?
NR_168483.1:n.692_707del