Canonical Allele Identifier: CA2639263165

Gene: ACE

Linked Data

• gnomAD v4: 17-63486646-TATCAAGCGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486651_63486659del , CM000679.2:g.63486651_63486659del	GRCh38
NC_000017.10:g.61564012_61564020del , CM000679.1:g.61564012_61564020del	GRCh37
NC_000017.9:g.58917744_58917752del	NCBI36
NG_011648.1:g.14579_14587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2153_2161del MANE Select	ENSP00000290866.4:p.Lys718_Ile720del
ENST00000290863.10:c.431_439del	ENSP00000290863.6:p.Lys144_Ile146del
ENST00000290866.9:c.2153_2161del	ENSP00000290866.4:p.Lys718_Ile720del
ENST00000413513.7:c.431_439del	ENSP00000392247.3:p.Lys144_Ile146del
ENST00000428043.5:c.2153_2161del	ENSP00000397593.2:p.Lys718_Ile720del
ENST00000577647.2:c.431_439del	ENSP00000464149.1:p.Lys144_Ile146del
ENST00000578839.5:c.*223_*231del	ENSP00000462110.2:n.*223_*231del
ENST00000579204.1:c.334_342del	ENSP00000464629.1:n.334_342del
ENST00000579314.5:c.431_439del	ENSP00000462599.1:p.Lys144_Ile146del
ENST00000579726.5:c.715_723del
ENST00000582005.5:c.*73_*81del	ENSP00000462002.1:n.*73_*81del
NM_000789.3:c.2153_2161del	NP_000780.1:p.Lys718_Ile720del
NM_001178057.1:c.431_439del	NP_001171528.1:p.Lys144_Ile146del
NM_152830.2:c.431_439del	NP_690043.1:p.Lys144_Ile146del
XM_005257110.1:c.1604_1612del	XP_005257167.1:p.Lys535_Ile537del
XM_006721737.2:c.491_499del	XP_006721800.2:p.Lys164_Ile166del
XM_006721737.3:c.491_499del	XP_006721800.2:p.Lys164_Ile166del
NM_000789.4:c.2153_2161del MANE Select	NP_000780.1:p.Lys718_Ile720del
NM_001178057.2:c.431_439del	NP_001171528.1:p.Lys144_Ile146del
NM_152830.3:c.431_439del	NP_690043.1:p.Lys144_Ile146del
NM_001382700.1:c.1586_1594del	NP_001369629.1:p.Lys529_Ile531del
NM_001382701.1:c.1301_1309del	NP_001369630.1:p.Lys434_Ile436del
NM_001382702.1:c.83_91del	NP_001369631.1:p.Lys28_Ile30del
NR_168483.1:n.453_461del