Canonical Allele Identifier: CA2639246279

Gene: ACE

Linked Data

• gnomAD v4: 17-63498213-GCCACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498215_63498219del , CM000679.2:g.63498215_63498219del	GRCh38
NC_000017.10:g.61575576_61575580del , CM000679.1:g.61575576_61575580del	GRCh37
NC_000017.9:g.58929308_58929312del	NCBI36
NG_011648.1:g.26143_26147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*849_*853del MANE Select	ENSP00000290866.4:n.*849_*853del
ENST00000290866.9:c.*849_*853del	ENSP00000290866.4:n.*849_*853del
ENST00000428043.5:c.*1192_*1196del	ENSP00000397593.2:n.*1192_*1196del
ENST00000577647.2:c.1969+1230_1969+1234del	ENSP00000464149.1:n.1969+1230_1969+1234del
NM_000789.3:c.*849_*853del	NP_000780.1:n.*849_*853del
NM_001178057.1:c.*849_*853del	NP_001171528.1:n.*849_*853del
NM_152830.2:c.*849_*853del	NP_690043.1:n.*849_*853del
XM_005257110.1:c.*849_*853del	XP_005257167.1:n.*849_*853del
XM_006721737.2:c.*849_*853del	XP_006721800.2:n.*849_*853del
NM_000789.4:c.*849_*853del MANE Select	NP_000780.1:n.*849_*853del
NM_001178057.2:c.*849_*853del	NP_001171528.1:n.*849_*853del
NM_152830.3:c.*849_*853del	NP_690043.1:n.*849_*853del
NM_001382700.1:c.*849_*853del	NP_001369629.1:n.*849_*853del
NM_001382701.1:c.*849_*853del	NP_001369630.1:n.*849_*853del
NM_001382702.1:c.*849_*853del	NP_001369631.1:n.*849_*853del
NR_168483.1:n.3148_3152del