Canonical Allele Identifier: CA2639246229

Gene: ACE

Linked Data

• gnomAD v4: 17-63498201-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498202del , CM000679.2:g.63498202del	GRCh38
NC_000017.10:g.61575563del , CM000679.1:g.61575563del	GRCh37
NC_000017.9:g.58929295del	NCBI36
NG_011648.1:g.26130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*836del MANE Select	ENSP00000290866.4:n.*836del
ENST00000290866.9:c.*836del	ENSP00000290866.4:n.*836del
ENST00000428043.5:c.*1179del	ENSP00000397593.2:n.*1179del
ENST00000577647.2:c.1969+1217del	ENSP00000464149.1:n.1969+1217del
NM_000789.3:c.*836del	NP_000780.1:n.*836del
NM_001178057.1:c.*836del	NP_001171528.1:n.*836del
NM_152830.2:c.*836del	NP_690043.1:n.*836del
XM_005257110.1:c.*836del	XP_005257167.1:n.*836del
XM_006721737.2:c.*836del	XP_006721800.2:n.*836del
NM_000789.4:c.*836del MANE Select	NP_000780.1:n.*836del
NM_001178057.2:c.*836del	NP_001171528.1:n.*836del
NM_152830.3:c.*836del	NP_690043.1:n.*836del
NM_001382700.1:c.*836del	NP_001369629.1:n.*836del
NM_001382701.1:c.*836del	NP_001369630.1:n.*836del
NM_001382702.1:c.*836del	NP_001369631.1:n.*836del
NR_168483.1:n.3135del