Canonical Allele Identifier: CA2639243773

Gene: ACE

Linked Data

• gnomAD v4: 17-63497242-G-GCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497244_63497246dup , CM000679.2:g.63497244_63497246dup	GRCh38
NC_000017.10:g.61574605_61574607dup , CM000679.1:g.61574605_61574607dup	GRCh37
NC_000017.9:g.58928337_58928339dup	NCBI36
NG_011648.1:g.25172_25174dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3799_3801dup MANE Select	ENSP00000290866.4:p.Ile1267_Ala1268insIle
ENST00000290863.10:c.2077_2079dup	ENSP00000290863.6:p.Ile693_Ala694insIle
ENST00000290866.9:c.3799_3801dup	ENSP00000290866.4:p.Ile1267_Ala1268insIle
ENST00000413513.7:c.1954_1956dup	ENSP00000392247.3:p.Ile652_Ala653insIle
ENST00000428043.5:c.*221_*223dup	ENSP00000397593.2:n.*221_*223dup
ENST00000577647.2:c.1969+259_1969+261dup	ENSP00000464149.1:n.1969+259_1969+261dup
ENST00000578839.5:c.*1554_*1556dup	ENSP00000462110.2:n.*1554_*1556dup
ENST00000579314.5:c.*1528_*1530dup	ENSP00000462599.1:n.*1528_*1530dup
NM_000789.3:c.3799_3801dup	NP_000780.1:p.Ile1267_Ala1268insIle
NM_001178057.1:c.1954_1956dup	NP_001171528.1:p.Ile652_Ala653insIle
NM_152830.2:c.2077_2079dup	NP_690043.1:p.Ile693_Ala694insIle
XM_005257110.1:c.3250_3252dup	XP_005257167.1:p.Ile1084_Ala1085insIle
XM_006721737.2:c.2137_2139dup	XP_006721800.2:p.Ile713_Ala714insIle
XM_006721737.3:c.2137_2139dup	XP_006721800.2:p.Ile713_Ala714insIle
NM_000789.4:c.3799_3801dup MANE Select	NP_000780.1:p.Ile1267_Ala1268insIle
NM_001178057.2:c.1954_1956dup	NP_001171528.1:p.Ile652_Ala653insIle
NM_152830.3:c.2077_2079dup	NP_690043.1:p.Ile693_Ala694insIle
NM_001382700.1:c.3232_3234dup	NP_001369629.1:p.Ile1078_Ala1079insIle
NM_001382701.1:c.2947_2949dup	NP_001369630.1:p.Ile983_Ala984insIle
NM_001382702.1:c.1414_1416dup	NP_001369631.1:p.Ile472_Ala473insIle
NR_168483.1:n.2177_2179dup