Canonical Allele Identifier: CA2639243735

Gene: ACE

Linked Data

• gnomAD v4: 17-63497215-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497218del , CM000679.2:g.63497218del	GRCh38
NC_000017.10:g.61574579del , CM000679.1:g.61574579del	GRCh37
NC_000017.9:g.58928311del	NCBI36
NG_011648.1:g.25146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3773del MANE Select	ENSP00000290866.4:p.Gly1258AlafsTer14
ENST00000290863.10:c.2051del	ENSP00000290863.6:p.Gly684AlafsTer14
ENST00000290866.9:c.3773del	ENSP00000290866.4:p.Gly1258AlafsTer14
ENST00000413513.7:c.1928del	ENSP00000392247.3:p.Gly643AlafsTer14
ENST00000428043.5:c.*195del	ENSP00000397593.2:n.*195del
ENST00000577647.2:c.1969+233del	ENSP00000464149.1:n.1969+233del
ENST00000578839.5:c.*1528del	ENSP00000462110.2:n.*1528del
ENST00000579314.5:c.*1502del	ENSP00000462599.1:n.*1502del
NM_000789.3:c.3773del	NP_000780.1:p.Gly1258AlafsTer14
NM_001178057.1:c.1928del	NP_001171528.1:p.Gly643AlafsTer14
NM_152830.2:c.2051del	NP_690043.1:p.Gly684AlafsTer14
XM_005257110.1:c.3224del	XP_005257167.1:p.Gly1075AlafsTer14
XM_006721737.2:c.2111del	XP_006721800.2:p.Gly704AlafsTer14
XM_006721737.3:c.2111del	XP_006721800.2:p.Gly704AlafsTer14
NM_000789.4:c.3773del MANE Select	NP_000780.1:p.Gly1258AlafsTer14
NM_001178057.2:c.1928del	NP_001171528.1:p.Gly643AlafsTer14
NM_152830.3:c.2051del	NP_690043.1:p.Gly684AlafsTer14
NM_001382700.1:c.3206del	NP_001369629.1:p.Gly1069AlafsTer14
NM_001382701.1:c.2921del	NP_001369630.1:p.Gly974AlafsTer14
NM_001382702.1:c.1388del	NP_001369631.1:p.Gly463AlafsTer14
NR_168483.1:n.2151del