Canonical Allele Identifier: CA2639246158

Gene: ACE

Linked Data

• gnomAD v4: 17-63498182-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498183del , CM000679.2:g.63498183del	GRCh38
NC_000017.10:g.61575544del , CM000679.1:g.61575544del	GRCh37
NC_000017.9:g.58929276del	NCBI36
NG_011648.1:g.26111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*817del MANE Select	ENSP00000290866.4:n.*817del
ENST00000290866.9:c.*817del	ENSP00000290866.4:n.*817del
ENST00000428043.5:c.*1160del	ENSP00000397593.2:n.*1160del
ENST00000577647.2:c.1969+1198del	ENSP00000464149.1:n.1969+1198del
NM_000789.3:c.*817del	NP_000780.1:n.*817del
NM_001178057.1:c.*817del	NP_001171528.1:n.*817del
NM_152830.2:c.*817del	NP_690043.1:n.*817del
XM_005257110.1:c.*817del	XP_005257167.1:n.*817del
XM_006721737.2:c.*817del	XP_006721800.2:n.*817del
NM_000789.4:c.*817del MANE Select	NP_000780.1:n.*817del
NM_001178057.2:c.*817del	NP_001171528.1:n.*817del
NM_152830.3:c.*817del	NP_690043.1:n.*817del
NM_001382700.1:c.*817del	NP_001369629.1:n.*817del
NM_001382701.1:c.*817del	NP_001369630.1:n.*817del
NM_001382702.1:c.*817del	NP_001369631.1:n.*817del
NR_168483.1:n.3116del