Canonical Allele Identifier: CA2639243651

Gene: ACE

Linked Data

• gnomAD v4: 17-63497179-T-TCCTGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497185_63497190dup , CM000679.2:g.63497185_63497190dup	GRCh38
NC_000017.10:g.61574546_61574551dup , CM000679.1:g.61574546_61574551dup	GRCh37
NC_000017.9:g.58928278_58928283dup	NCBI36
NG_011648.1:g.25113_25118dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3740_3745dup MANE Select	ENSP00000290866.4:p.Leu1248_Asp1249insGlyLeu
ENST00000290863.10:c.2018_2023dup	ENSP00000290863.6:p.Leu674_Asp675insGlyLeu
ENST00000290866.9:c.3740_3745dup	ENSP00000290866.4:p.Leu1248_Asp1249insGlyLeu
ENST00000413513.7:c.1895_1900dup	ENSP00000392247.3:p.Leu633_Asp634insGlyLeu
ENST00000428043.5:c.*162_*167dup	ENSP00000397593.2:n.*162_*167dup
ENST00000577647.2:c.1969+200_1969+205dup	ENSP00000464149.1:n.1969+200_1969+205dup
ENST00000578839.5:c.*1495_*1500dup	ENSP00000462110.2:n.*1495_*1500dup
ENST00000579314.5:c.*1469_*1474dup	ENSP00000462599.1:n.*1469_*1474dup
NM_000789.3:c.3740_3745dup	NP_000780.1:p.Leu1248_Asp1249insGlyLeu
NM_001178057.1:c.1895_1900dup	NP_001171528.1:p.Leu633_Asp634insGlyLeu
NM_152830.2:c.2018_2023dup	NP_690043.1:p.Leu674_Asp675insGlyLeu
XM_005257110.1:c.3191_3196dup	XP_005257167.1:p.Leu1065_Asp1066insGlyLeu
XM_006721737.2:c.2078_2083dup	XP_006721800.2:p.Leu694_Asp695insGlyLeu
XM_006721737.3:c.2078_2083dup	XP_006721800.2:p.Leu694_Asp695insGlyLeu
NM_000789.4:c.3740_3745dup MANE Select	NP_000780.1:p.Leu1248_Asp1249insGlyLeu
NM_001178057.2:c.1895_1900dup	NP_001171528.1:p.Leu633_Asp634insGlyLeu
NM_152830.3:c.2018_2023dup	NP_690043.1:p.Leu674_Asp675insGlyLeu
NM_001382700.1:c.3173_3178dup	NP_001369629.1:p.Leu1059_Asp1060insGlyLeu
NM_001382701.1:c.2888_2893dup	NP_001369630.1:p.Leu964_Asp965insGlyLeu
NM_001382702.1:c.1355_1360dup	NP_001369631.1:p.Leu453_Asp454insGlyLeu
NR_168483.1:n.2118_2123dup