Canonical Allele Identifier: CA2639243630

Gene: ACE

Linked Data

• gnomAD v4: 17-63497174-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497175del , CM000679.2:g.63497175del	GRCh38
NC_000017.10:g.61574536del , CM000679.1:g.61574536del	GRCh37
NC_000017.9:g.58928268del	NCBI36
NG_011648.1:g.25103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3730del MANE Select	ENSP00000290866.4:p.Ser1244AlafsTer28
ENST00000290863.10:c.2008del	ENSP00000290863.6:p.Ser670AlafsTer28
ENST00000290866.9:c.3730del	ENSP00000290866.4:p.Ser1244AlafsTer28
ENST00000413513.7:c.1885del	ENSP00000392247.3:p.Ser629AlafsTer28
ENST00000428043.5:c.*152del	ENSP00000397593.2:n.*152del
ENST00000577647.2:c.1969+190del	ENSP00000464149.1:n.1969+190del
ENST00000578839.5:c.*1485del	ENSP00000462110.2:n.*1485del
ENST00000579314.5:c.*1459del	ENSP00000462599.1:n.*1459del
NM_000789.3:c.3730del	NP_000780.1:p.Ser1244AlafsTer28
NM_001178057.1:c.1885del	NP_001171528.1:p.Ser629AlafsTer28
NM_152830.2:c.2008del	NP_690043.1:p.Ser670AlafsTer28
XM_005257110.1:c.3181del	XP_005257167.1:p.Ser1061AlafsTer28
XM_006721737.2:c.2068del	XP_006721800.2:p.Ser690AlafsTer28
XM_006721737.3:c.2068del	XP_006721800.2:p.Ser690AlafsTer28
NM_000789.4:c.3730del MANE Select	NP_000780.1:p.Ser1244AlafsTer28
NM_001178057.2:c.1885del	NP_001171528.1:p.Ser629AlafsTer28
NM_152830.3:c.2008del	NP_690043.1:p.Ser670AlafsTer28
NM_001382700.1:c.3163del	NP_001369629.1:p.Ser1055AlafsTer28
NM_001382701.1:c.2878del	NP_001369630.1:p.Ser960AlafsTer28
NM_001382702.1:c.1345del	NP_001369631.1:p.Ser449AlafsTer28
NR_168483.1:n.2108del