Canonical Allele Identifier: CA2269944862

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486645_63486647delinsCTA , CM000679.2:g.63486645_63486647delinsCTA	GRCh38
NC_000017.10:g.61564006_61564008delinsCTA , CM000679.1:g.61564006_61564008delinsCTA	GRCh37
NC_000017.9:g.58917738_58917740delinsCTA	NCBI36
NG_011648.1:g.14573_14575delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2147_2149delinsCTA MANE Select	ENSP00000290866.4:p.Thr716=
ENST00000290863.10:c.425_427delinsCTA	ENSP00000290863.6:p.Thr142=
ENST00000290866.9:c.2147_2149delinsCTA	ENSP00000290866.4:p.Thr716=
ENST00000413513.7:c.425_427delinsCTA	ENSP00000392247.3:p.Thr142=
ENST00000428043.5:c.2147_2149delinsCTA	ENSP00000397593.2:p.Thr716=
ENST00000577647.2:c.425_427delinsCTA	ENSP00000464149.1:p.Thr142=
ENST00000578839.5:c.*217_*219delinsCTA	ENSP00000462110.2:n.*217_*219delinsCTA
ENST00000579204.1:c.328_330delinsCTA	ENSP00000464629.1:n.328_330delinsCTA
ENST00000579314.5:c.425_427delinsCTA	ENSP00000462599.1:p.Thr142=
ENST00000579726.5:c.709_711delinsCTA
ENST00000582005.5:c.*67_*69delinsCTA	ENSP00000462002.1:n.*67_*69delinsCTA
NM_000789.3:c.2147_2149delinsCTA	NP_000780.1:p.Thr716=
NM_001178057.1:c.425_427delinsCTA	NP_001171528.1:p.Thr142=
NM_152830.2:c.425_427delinsCTA	NP_690043.1:p.Thr142=
XM_005257110.1:c.1598_1600delinsCTA	XP_005257167.1:p.Thr533=
XM_006721737.2:c.485_487delinsCTA	XP_006721800.2:p.Thr162=
XM_006721737.3:c.485_487delinsCTA	XP_006721800.2:p.Thr162=
NM_000789.4:c.2147_2149delinsCTA MANE Select	NP_000780.1:p.Thr716=
NM_001178057.2:c.425_427delinsCTA	NP_001171528.1:p.Thr142=
NM_152830.3:c.425_427delinsCTA	NP_690043.1:p.Thr142=
NM_001382700.1:c.1580_1582delinsCTA	NP_001369629.1:p.Thr527=
NM_001382701.1:c.1295_1297delinsCTA	NP_001369630.1:p.Thr432=
NM_001382702.1:c.77_79delinsCTA	NP_001369631.1:p.Thr26=
NR_168483.1:n.447_449delinsCTA