Canonical Allele Identifier: CA985411642

Gene: ACE

Linked Data

• gnomAD v3: 17-63488674-C-CA
• gnomAD v4: 17-63488674-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488674_63488675insA , CM000679.2:g.63488674_63488675insA	GRCh38
NC_000017.10:g.61566035_61566036insA , CM000679.1:g.61566035_61566036insA	GRCh37
NC_000017.9:g.58919767_58919768insA	NCBI36
NG_011648.1:g.16602_16603insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2332_2333insA MANE Select	ENSP00000290866.4:p.Arg778GlnfsTer4
ENST00000290863.10:c.610_611insA	ENSP00000290863.6:p.Arg204GlnfsTer4
ENST00000290866.9:c.2332_2333insA	ENSP00000290866.4:p.Arg778GlnfsTer4
ENST00000413513.7:c.610_611insA	ENSP00000392247.3:p.Arg204GlnfsTer4
ENST00000428043.5:c.2332_2333insA	ENSP00000397593.2:p.Arg778GlnfsTer4
ENST00000577647.2:c.610_611insA	ENSP00000464149.1:p.Arg204GlnfsTer4
ENST00000578839.5:c.*402_*403insA	ENSP00000462110.2:n.*402_*403insA
ENST00000579204.1:c.591_592insA	ENSP00000464629.1:n.591_592insA
ENST00000579314.5:c.*61_*62insA	ENSP00000462599.1:n.*61_*62insA
ENST00000582005.5:c.*252_*253insA	ENSP00000462002.1:n.*252_*253insA
ENST00000582761.1:c.100_101insA	ENSP00000462909.1:p.Arg34GlnfsTer4
ENST00000584865.5:n.278_279insA
NM_000789.3:c.2332_2333insA	NP_000780.1:p.Arg778GlnfsTer4
NM_001178057.1:c.610_611insA	NP_001171528.1:p.Arg204GlnfsTer4
NM_152830.2:c.610_611insA	NP_690043.1:p.Arg204GlnfsTer4
XM_005257110.1:c.1783_1784insA	XP_005257167.1:p.Arg595GlnfsTer4
XM_006721737.2:c.670_671insA	XP_006721800.2:p.Arg224GlnfsTer4
XM_006721737.3:c.670_671insA	XP_006721800.2:p.Arg224GlnfsTer4
NM_000789.4:c.2332_2333insA MANE Select	NP_000780.1:p.Arg778GlnfsTer4
NM_001178057.2:c.610_611insA	NP_001171528.1:p.Arg204GlnfsTer4
NM_152830.3:c.610_611insA	NP_690043.1:p.Arg204GlnfsTer4
NM_001382700.1:c.1765_1766insA	NP_001369629.1:p.Arg589GlnfsTer4
NM_001382701.1:c.1480_1481insA	NP_001369630.1:p.Arg494GlnfsTer4
NM_001382702.1:c.262_263insA	NP_001369631.1:p.Arg88GlnfsTer4
NR_168483.1:n.710_711insA