Canonical Allele Identifier: CA2733905798

Gene: ACE

Linked Data

• dbSNP Id: rs2147580469

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497220del , CM000679.2:g.63497220del	GRCh38
NC_000017.10:g.61574581del , CM000679.1:g.61574581del	GRCh37
NC_000017.9:g.58928313del	NCBI36
NG_011648.1:g.25148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3775del MANE Select	ENSP00000290866.4:p.Gln1259SerfsTer13
ENST00000290863.10:c.2053del	ENSP00000290863.6:p.Gln685SerfsTer13
ENST00000290866.9:c.3775del	ENSP00000290866.4:p.Gln1259SerfsTer13
ENST00000413513.7:c.1930del	ENSP00000392247.3:p.Gln644SerfsTer13
ENST00000428043.5:c.*197del	ENSP00000397593.2:n.*197del
ENST00000577647.2:c.1969+235del	ENSP00000464149.1:n.1969+235del
ENST00000578839.5:c.*1530del	ENSP00000462110.2:n.*1530del
ENST00000579314.5:c.*1504del	ENSP00000462599.1:n.*1504del
NM_000789.3:c.3775del	NP_000780.1:p.Gln1259SerfsTer13
NM_001178057.1:c.1930del	NP_001171528.1:p.Gln644SerfsTer13
NM_152830.2:c.2053del	NP_690043.1:p.Gln685SerfsTer13
XM_005257110.1:c.3226del	XP_005257167.1:p.Gln1076SerfsTer13
XM_006721737.2:c.2113del	XP_006721800.2:p.Gln705SerfsTer13
XM_006721737.3:c.2113del	XP_006721800.2:p.Gln705SerfsTer13
NM_000789.4:c.3775del MANE Select	NP_000780.1:p.Gln1259SerfsTer13
NM_001178057.2:c.1930del	NP_001171528.1:p.Gln644SerfsTer13
NM_152830.3:c.2053del	NP_690043.1:p.Gln685SerfsTer13
NM_001382700.1:c.3208del	NP_001369629.1:p.Gln1070SerfsTer13
NM_001382701.1:c.2923del	NP_001369630.1:p.Gln975SerfsTer13
NM_001382702.1:c.1390del	NP_001369631.1:p.Gln464SerfsTer13
NR_168483.1:n.2153del