Canonical Allele Identifier: CA2639263166

Gene: ACE

Linked Data

• gnomAD v4: 17-63486660-TAAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486663_63486666del , CM000679.2:g.63486663_63486666del	GRCh38
NC_000017.10:g.61564024_61564027del , CM000679.1:g.61564024_61564027del	GRCh37
NC_000017.9:g.58917756_58917759del	NCBI36
NG_011648.1:g.14591_14594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2165_2168del MANE Select	ENSP00000290866.4:p.Lys722ArgfsTer5
ENST00000290863.10:c.443_446del	ENSP00000290863.6:p.Lys148ArgfsTer5
ENST00000290866.9:c.2165_2168del	ENSP00000290866.4:p.Lys722ArgfsTer5
ENST00000413513.7:c.443_446del	ENSP00000392247.3:p.Lys148ArgfsTer5
ENST00000428043.5:c.2165_2168del	ENSP00000397593.2:p.Lys722ArgfsTer5
ENST00000577647.2:c.443_446del	ENSP00000464149.1:p.Lys148ArgfsTer5
ENST00000578839.5:c.*235_*238del	ENSP00000462110.2:n.*235_*238del
ENST00000579204.1:c.346_349del	ENSP00000464629.1:n.346_349del
ENST00000579314.5:c.443_446del	ENSP00000462599.1:p.Lys148ArgfsTer5
ENST00000579726.5:c.727_730del
ENST00000582005.5:c.*85_*88del	ENSP00000462002.1:n.*85_*88del
NM_000789.3:c.2165_2168del	NP_000780.1:p.Lys722ArgfsTer5
NM_001178057.1:c.443_446del	NP_001171528.1:p.Lys148ArgfsTer5
NM_152830.2:c.443_446del	NP_690043.1:p.Lys148ArgfsTer5
XM_005257110.1:c.1616_1619del	XP_005257167.1:p.Lys539ArgfsTer5
XM_006721737.2:c.503_506del	XP_006721800.2:p.Lys168ArgfsTer5
XM_006721737.3:c.503_506del	XP_006721800.2:p.Lys168ArgfsTer5
NM_000789.4:c.2165_2168del MANE Select	NP_000780.1:p.Lys722ArgfsTer5
NM_001178057.2:c.443_446del	NP_001171528.1:p.Lys148ArgfsTer5
NM_152830.3:c.443_446del	NP_690043.1:p.Lys148ArgfsTer5
NM_001382700.1:c.1598_1601del	NP_001369629.1:p.Lys533ArgfsTer5
NM_001382701.1:c.1313_1316del	NP_001369630.1:p.Lys438ArgfsTer5
NM_001382702.1:c.95_98del	NP_001369631.1:p.Lys32ArgfsTer5
NR_168483.1:n.465_468del