Canonical Allele Identifier: CA2639246234

Gene: ACE

Linked Data

• gnomAD v4: 17-63498202-AGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498205_63498207del , CM000679.2:g.63498205_63498207del	GRCh38
NC_000017.10:g.61575566_61575568del , CM000679.1:g.61575566_61575568del	GRCh37
NC_000017.9:g.58929298_58929300del	NCBI36
NG_011648.1:g.26133_26135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*839_*841del MANE Select	ENSP00000290866.4:n.*839_*841del
ENST00000290866.9:c.*839_*841del	ENSP00000290866.4:n.*839_*841del
ENST00000428043.5:c.*1182_*1184del	ENSP00000397593.2:n.*1182_*1184del
ENST00000577647.2:c.1969+1220_1969+1222del	ENSP00000464149.1:n.1969+1220_1969+1222del
NM_000789.3:c.*839_*841del	NP_000780.1:n.*839_*841del
NM_001178057.1:c.*839_*841del	NP_001171528.1:n.*839_*841del
NM_152830.2:c.*839_*841del	NP_690043.1:n.*839_*841del
XM_005257110.1:c.*839_*841del	XP_005257167.1:n.*839_*841del
XM_006721737.2:c.*839_*841del	XP_006721800.2:n.*839_*841del
NM_000789.4:c.*839_*841del MANE Select	NP_000780.1:n.*839_*841del
NM_001178057.2:c.*839_*841del	NP_001171528.1:n.*839_*841del
NM_152830.3:c.*839_*841del	NP_690043.1:n.*839_*841del
NM_001382700.1:c.*839_*841del	NP_001369629.1:n.*839_*841del
NM_001382701.1:c.*839_*841del	NP_001369630.1:n.*839_*841del
NM_001382702.1:c.*839_*841del	NP_001369631.1:n.*839_*841del
NR_168483.1:n.3138_3140del