Canonical Allele Identifier: CA2269944968

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486848_63486849delinsCT , CM000679.2:g.63486848_63486849delinsCT	GRCh38
NC_000017.10:g.61564209_61564210delinsCT , CM000679.1:g.61564209_61564210delinsCT	GRCh37
NC_000017.9:g.58917941_58917942delinsCT	NCBI36
NG_011648.1:g.14776_14777delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2217+133_2217+134delinsCT MANE Select	ENSP00000290866.4:n.2217+133_2217+134delinsCT
ENST00000290863.10:c.495+133_495+134delinsCT	ENSP00000290863.6:n.495+133_495+134delinsCT
ENST00000290866.9:c.2217+133_2217+134delinsCT	ENSP00000290866.4:n.2217+133_2217+134delinsCT
ENST00000413513.7:c.495+133_495+134delinsCT	ENSP00000392247.3:n.495+133_495+134delinsCT
ENST00000428043.5:c.2217+133_2217+134delinsCT	ENSP00000397593.2:n.2217+133_2217+134delinsCT
ENST00000577647.2:c.495+133_495+134delinsCT	ENSP00000464149.1:n.495+133_495+134delinsCT
ENST00000578839.5:c.*287+133_*287+134delinsCT	ENSP00000462110.2:n.*287+133_*287+134delinsCT
ENST00000579204.1:c.398+133_398+134delinsCT	ENSP00000464629.1:n.398+133_398+134delinsCT
ENST00000579314.5:c.495+133_495+134delinsCT	ENSP00000462599.1:n.495+133_495+134delinsCT
ENST00000579726.5:c.779+133_779+134delinsCT
ENST00000582005.5:c.*137+133_*137+134delinsCT	ENSP00000462002.1:n.*137+133_*137+134delinsCT
ENST00000584865.5:n.26_27delinsCT
NM_000789.3:c.2217+133_2217+134delinsCT	NP_000780.1:n.2217+133_2217+134delinsCT
NM_001178057.1:c.495+133_495+134delinsCT	NP_001171528.1:n.495+133_495+134delinsCT
NM_152830.2:c.495+133_495+134delinsCT	NP_690043.1:n.495+133_495+134delinsCT
XM_005257110.1:c.1668+133_1668+134delinsCT	XP_005257167.1:n.1668+133_1668+134delinsCT
XM_006721737.2:c.555+133_555+134delinsCT	XP_006721800.2:n.555+133_555+134delinsCT
XM_006721737.3:c.555+133_555+134delinsCT	XP_006721800.2:n.555+133_555+134delinsCT
NM_000789.4:c.2217+133_2217+134delinsCT MANE Select	NP_000780.1:n.2217+133_2217+134delinsCT
NM_001178057.2:c.495+133_495+134delinsCT	NP_001171528.1:n.495+133_495+134delinsCT
NM_152830.3:c.495+133_495+134delinsCT	NP_690043.1:n.495+133_495+134delinsCT
NM_001382700.1:c.1650+133_1650+134delinsCT	NP_001369629.1:n.1650+133_1650+134delinsCT
NM_001382701.1:c.1365+133_1365+134delinsCT	NP_001369630.1:n.1365+133_1365+134delinsCT
NM_001382702.1:c.147+133_147+134delinsCT	NP_001369631.1:n.147+133_147+134delinsCT
NR_168483.1:n.517+133_517+134delinsCT