Canonical Allele Identifier: CA2639263226

Gene: ACE

Linked Data

• gnomAD v4: 17-63486840-A-ACT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486840_63486841insCT , CM000679.2:g.63486840_63486841insCT	GRCh38
NC_000017.10:g.61564201_61564202insCT , CM000679.1:g.61564201_61564202insCT	GRCh37
NC_000017.9:g.58917933_58917934insCT	NCBI36
NG_011648.1:g.14768_14769insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2217+125_2217+126insCT MANE Select	ENSP00000290866.4:n.2217+125_2217+126insCT
ENST00000290863.10:c.495+125_495+126insCT	ENSP00000290863.6:n.495+125_495+126insCT
ENST00000290866.9:c.2217+125_2217+126insCT	ENSP00000290866.4:n.2217+125_2217+126insCT
ENST00000413513.7:c.495+125_495+126insCT	ENSP00000392247.3:n.495+125_495+126insCT
ENST00000428043.5:c.2217+125_2217+126insCT	ENSP00000397593.2:n.2217+125_2217+126insCT
ENST00000577647.2:c.495+125_495+126insCT	ENSP00000464149.1:n.495+125_495+126insCT
ENST00000578839.5:c.*287+125_*287+126insCT	ENSP00000462110.2:n.*287+125_*287+126insCT
ENST00000579204.1:c.398+125_398+126insCT	ENSP00000464629.1:n.398+125_398+126insCT
ENST00000579314.5:c.495+125_495+126insCT	ENSP00000462599.1:n.495+125_495+126insCT
ENST00000579726.5:c.779+125_779+126insCT
ENST00000582005.5:c.*137+125_*137+126insCT	ENSP00000462002.1:n.*137+125_*137+126insCT
ENST00000584865.5:n.18_19insCT
NM_000789.3:c.2217+125_2217+126insCT	NP_000780.1:n.2217+125_2217+126insCT
NM_001178057.1:c.495+125_495+126insCT	NP_001171528.1:n.495+125_495+126insCT
NM_152830.2:c.495+125_495+126insCT	NP_690043.1:n.495+125_495+126insCT
XM_005257110.1:c.1668+125_1668+126insCT	XP_005257167.1:n.1668+125_1668+126insCT
XM_006721737.2:c.555+125_555+126insCT	XP_006721800.2:n.555+125_555+126insCT
XM_006721737.3:c.555+125_555+126insCT	XP_006721800.2:n.555+125_555+126insCT
NM_000789.4:c.2217+125_2217+126insCT MANE Select	NP_000780.1:n.2217+125_2217+126insCT
NM_001178057.2:c.495+125_495+126insCT	NP_001171528.1:n.495+125_495+126insCT
NM_152830.3:c.495+125_495+126insCT	NP_690043.1:n.495+125_495+126insCT
NM_001382700.1:c.1650+125_1650+126insCT	NP_001369629.1:n.1650+125_1650+126insCT
NM_001382701.1:c.1365+125_1365+126insCT	NP_001369630.1:n.1365+125_1365+126insCT
NM_001382702.1:c.147+125_147+126insCT	NP_001369631.1:n.147+125_147+126insCT
NR_168483.1:n.517+125_517+126insCT