Canonical Allele Identifier: CA2810114610

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497191del , CM000679.2:g.63497191del	GRCh38
NC_000017.10:g.61574552del , CM000679.1:g.61574552del	GRCh37
NC_000017.9:g.58928284del	NCBI36
NG_011648.1:g.25119del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3746del MANE Select	ENSP00000290866.4:p.Asp1249AlafsTer23
ENST00000290863.10:c.2024del	ENSP00000290863.6:p.Asp675AlafsTer23
ENST00000290866.9:c.3746del	ENSP00000290866.4:p.Asp1249AlafsTer23
ENST00000413513.7:c.1901del	ENSP00000392247.3:p.Asp634AlafsTer23
ENST00000428043.5:c.*168del	ENSP00000397593.2:n.*168del
ENST00000577647.2:c.1969+206del	ENSP00000464149.1:n.1969+206del
ENST00000578839.5:c.*1501del	ENSP00000462110.2:n.*1501del
ENST00000579314.5:c.*1475del	ENSP00000462599.1:n.*1475del
NM_000789.3:c.3746del	NP_000780.1:p.Asp1249AlafsTer23
NM_001178057.1:c.1901del	NP_001171528.1:p.Asp634AlafsTer23
NM_152830.2:c.2024del	NP_690043.1:p.Asp675AlafsTer23
XM_005257110.1:c.3197del	XP_005257167.1:p.Asp1066AlafsTer23
XM_006721737.2:c.2084del	XP_006721800.2:p.Asp695AlafsTer23
XM_006721737.3:c.2084del	XP_006721800.2:p.Asp695AlafsTer23
NM_000789.4:c.3746del MANE Select	NP_000780.1:p.Asp1249AlafsTer23
NM_001178057.2:c.1901del	NP_001171528.1:p.Asp634AlafsTer23
NM_152830.3:c.2024del	NP_690043.1:p.Asp675AlafsTer23
NM_001382700.1:c.3179del	NP_001369629.1:p.Asp1060AlafsTer23
NM_001382701.1:c.2894del	NP_001369630.1:p.Asp965AlafsTer23
NM_001382702.1:c.1361del	NP_001369631.1:p.Asp454AlafsTer23
NR_168483.1:n.2124del