Canonical Allele Identifier: CA2269944857

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486637_63486638delinsGA , CM000679.2:g.63486637_63486638delinsGA	GRCh38
NC_000017.10:g.61563998_61563999delinsGA , CM000679.1:g.61563998_61563999delinsGA	GRCh37
NC_000017.9:g.58917730_58917731delinsGA	NCBI36
NG_011648.1:g.14565_14566delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2139_2140delinsGA MANE Select	ENSP00000290866.4:p.Gln713=
ENST00000290863.10:c.417_418delinsGA	ENSP00000290863.6:p.Gln139=
ENST00000290866.9:c.2139_2140delinsGA	ENSP00000290866.4:p.Gln713=
ENST00000413513.7:c.417_418delinsGA	ENSP00000392247.3:p.Gln139=
ENST00000428043.5:c.2139_2140delinsGA	ENSP00000397593.2:p.Gln713=
ENST00000577647.2:c.417_418delinsGA	ENSP00000464149.1:p.Gln139=
ENST00000578839.5:c.*209_*210delinsGA	ENSP00000462110.2:n.*209_*210delinsGA
ENST00000579204.1:c.320_321delinsGA	ENSP00000464629.1:n.320_321delinsGA
ENST00000579314.5:c.417_418delinsGA	ENSP00000462599.1:p.Gln139=
ENST00000579726.5:c.701_702delinsGA
ENST00000582005.5:c.*59_*60delinsGA	ENSP00000462002.1:n.*59_*60delinsGA
NM_000789.3:c.2139_2140delinsGA	NP_000780.1:p.Gln713=
NM_001178057.1:c.417_418delinsGA	NP_001171528.1:p.Gln139=
NM_152830.2:c.417_418delinsGA	NP_690043.1:p.Gln139=
XM_005257110.1:c.1590_1591delinsGA	XP_005257167.1:p.Gln530=
XM_006721737.2:c.477_478delinsGA	XP_006721800.2:p.Gln159=
XM_006721737.3:c.477_478delinsGA	XP_006721800.2:p.Gln159=
NM_000789.4:c.2139_2140delinsGA MANE Select	NP_000780.1:p.Gln713=
NM_001178057.2:c.417_418delinsGA	NP_001171528.1:p.Gln139=
NM_152830.3:c.417_418delinsGA	NP_690043.1:p.Gln139=
NM_001382700.1:c.1572_1573delinsGA	NP_001369629.1:p.Gln524=
NM_001382701.1:c.1287_1288delinsGA	NP_001369630.1:p.Gln429=
NM_001382702.1:c.69_70delinsGA	NP_001369631.1:p.Gln23=
NR_168483.1:n.439_440delinsGA