Canonical Allele Identifier: CA985411794

Gene: ACE

Linked Data

• dbSNP Id: rs2030182697
• gnomAD v3: 17-63488954-A-AG
• gnomAD v4: 17-63488954-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488958dup , CM000679.2:g.63488958dup	GRCh38
NC_000017.10:g.61566319dup , CM000679.1:g.61566319dup	GRCh37
NC_000017.9:g.58920051dup	NCBI36
NG_011648.1:g.16886dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2467dup MANE Select	ENSP00000290866.4:p.Asp823GlyfsTer?
ENST00000290863.10:c.745dup	ENSP00000290863.6:p.Asp249GlyfsTer?
ENST00000290866.9:c.2467dup	ENSP00000290866.4:p.Asp823GlyfsTer?
ENST00000413513.7:c.745dup	ENSP00000392247.3:p.Asp249GlyfsTer?
ENST00000428043.5:c.2467dup	ENSP00000397593.2:p.Asp823GlyfsTer?
ENST00000577647.2:c.745dup	ENSP00000464149.1:p.Asp249GlyfsTer?
ENST00000578839.5:c.*519+167dup	ENSP00000462110.2:n.*519+167dup
ENST00000579204.1:c.726dup	ENSP00000464629.1:n.726dup
ENST00000579314.5:c.*196dup	ENSP00000462599.1:n.*196dup
ENST00000582005.5:c.*387dup	ENSP00000462002.1:n.*387dup
ENST00000582761.1:c.235dup	ENSP00000462909.1:p.Asp79GlyfsTer?
ENST00000584865.5:n.413dup
NM_000789.3:c.2467dup	NP_000780.1:p.Asp823GlyfsTer?
NM_001178057.1:c.745dup	NP_001171528.1:p.Asp249GlyfsTer?
NM_152830.2:c.745dup	NP_690043.1:p.Asp249GlyfsTer?
XM_005257110.1:c.1918dup	XP_005257167.1:p.Asp640GlyfsTer?
XM_006721737.2:c.805dup	XP_006721800.2:p.Asp269GlyfsTer?
XM_006721737.3:c.805dup	XP_006721800.2:p.Asp269GlyfsTer?
NM_000789.4:c.2467dup MANE Select	NP_000780.1:p.Asp823GlyfsTer?
NM_001178057.2:c.745dup	NP_001171528.1:p.Asp249GlyfsTer?
NM_152830.3:c.745dup	NP_690043.1:p.Asp249GlyfsTer?
NM_001382700.1:c.1900dup	NP_001369629.1:p.Asp634GlyfsTer?
NM_001382701.1:c.1615dup	NP_001369630.1:p.Asp539GlyfsTer?
NM_001382702.1:c.379+167dup	NP_001369631.1:n.379+167dup
NR_168483.1:n.845dup