Canonical Allele Identifier: CA2269945942

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488683_63488687delinsGAAGA , CM000679.2:g.63488683_63488687delinsGAAGA	GRCh38
NC_000017.10:g.61566044_61566048delinsGAAGA , CM000679.1:g.61566044_61566048delinsGAAGA	GRCh37
NC_000017.9:g.58919776_58919780delinsGAAGA	NCBI36
NG_011648.1:g.16611_16615delinsGAAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2341_2345delinsGAAGA MANE Select	ENSP00000290866.4:p.Glu781=
ENST00000290863.10:c.619_623delinsGAAGA	ENSP00000290863.6:p.Glu207=
ENST00000290866.9:c.2341_2345delinsGAAGA	ENSP00000290866.4:p.Glu781=
ENST00000413513.7:c.619_623delinsGAAGA	ENSP00000392247.3:p.Glu207=
ENST00000428043.5:c.2341_2345delinsGAAGA	ENSP00000397593.2:p.Glu781=
ENST00000577647.2:c.619_623delinsGAAGA	ENSP00000464149.1:p.Glu207=
ENST00000578839.5:c.*411_*415delinsGAAGA	ENSP00000462110.2:n.*411_*415delinsGAAGA
ENST00000579204.1:c.600_604delinsGAAGA	ENSP00000464629.1:n.600_604delinsGAAGA
ENST00000579314.5:c.*70_*74delinsGAAGA	ENSP00000462599.1:n.*70_*74delinsGAAGA
ENST00000582005.5:c.*261_*265delinsGAAGA	ENSP00000462002.1:n.*261_*265delinsGAAGA
ENST00000582761.1:c.109_113delinsGAAGA	ENSP00000462909.1:p.Glu37=
ENST00000584865.5:n.287_291delinsGAAGA
NM_000789.3:c.2341_2345delinsGAAGA	NP_000780.1:p.Glu781=
NM_001178057.1:c.619_623delinsGAAGA	NP_001171528.1:p.Glu207=
NM_152830.2:c.619_623delinsGAAGA	NP_690043.1:p.Glu207=
XM_005257110.1:c.1792_1796delinsGAAGA	XP_005257167.1:p.Glu598=
XM_006721737.2:c.679_683delinsGAAGA	XP_006721800.2:p.Glu227=
XM_006721737.3:c.679_683delinsGAAGA	XP_006721800.2:p.Glu227=
NM_000789.4:c.2341_2345delinsGAAGA MANE Select	NP_000780.1:p.Glu781=
NM_001178057.2:c.619_623delinsGAAGA	NP_001171528.1:p.Glu207=
NM_152830.3:c.619_623delinsGAAGA	NP_690043.1:p.Glu207=
NM_001382700.1:c.1774_1778delinsGAAGA	NP_001369629.1:p.Glu592=
NM_001382701.1:c.1489_1493delinsGAAGA	NP_001369630.1:p.Glu497=
NM_001382702.1:c.271_275delinsGAAGA	NP_001369631.1:p.Glu91=
NR_168483.1:n.719_723delinsGAAGA