Canonical Allele Identifier: CA2639263164

Gene: ACE

Linked Data

• gnomAD v4: 17-63486639-ACAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486643_63486645del , CM000679.2:g.63486643_63486645del	GRCh38
NC_000017.10:g.61564004_61564006del , CM000679.1:g.61564004_61564006del	GRCh37
NC_000017.9:g.58917736_58917738del	NCBI36
NG_011648.1:g.14571_14573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2145_2147del MANE Select	ENSP00000290866.4:p.Thr716del
ENST00000290863.10:c.423_425del	ENSP00000290863.6:p.Thr142del
ENST00000290866.9:c.2145_2147del	ENSP00000290866.4:p.Thr716del
ENST00000413513.7:c.423_425del	ENSP00000392247.3:p.Thr142del
ENST00000428043.5:c.2145_2147del	ENSP00000397593.2:p.Thr716del
ENST00000577647.2:c.423_425del	ENSP00000464149.1:p.Thr142del
ENST00000578839.5:c.*215_*217del	ENSP00000462110.2:n.*215_*217del
ENST00000579204.1:c.326_328del	ENSP00000464629.1:n.326_328del
ENST00000579314.5:c.423_425del	ENSP00000462599.1:p.Thr142del
ENST00000579726.5:c.707_709del
ENST00000582005.5:c.*65_*67del	ENSP00000462002.1:n.*65_*67del
NM_000789.3:c.2145_2147del	NP_000780.1:p.Thr716del
NM_001178057.1:c.423_425del	NP_001171528.1:p.Thr142del
NM_152830.2:c.423_425del	NP_690043.1:p.Thr142del
XM_005257110.1:c.1596_1598del	XP_005257167.1:p.Thr533del
XM_006721737.2:c.483_485del	XP_006721800.2:p.Thr162del
XM_006721737.3:c.483_485del	XP_006721800.2:p.Thr162del
NM_000789.4:c.2145_2147del MANE Select	NP_000780.1:p.Thr716del
NM_001178057.2:c.423_425del	NP_001171528.1:p.Thr142del
NM_152830.3:c.423_425del	NP_690043.1:p.Thr142del
NM_001382700.1:c.1578_1580del	NP_001369629.1:p.Thr527del
NM_001382701.1:c.1293_1295del	NP_001369630.1:p.Thr432del
NM_001382702.1:c.75_77del	NP_001369631.1:p.Thr26del
NR_168483.1:n.445_447del