Canonical Allele Identifier: CA627148242

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63483070dup , CM000679.2:g.63483070dup	GRCh38
NC_000017.10:g.61560431dup , CM000679.1:g.61560431dup	GRCh37
NC_000017.9:g.58914163dup	NCBI36
NG_011648.1:g.10998dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.1384dup MANE Select	NP_000780.1:p.Ile462AsnfsTer19
ENST00000290866.10:c.1384dup MANE Select	ENSP00000290866.4:p.Ile462AsnfsTer19
NM_000789.3:c.1384dup	NP_000780.1:p.Ile462AsnfsTer19
NM_001382700.1:c.817dup	NP_001369629.1:p.Ile273AsnfsTer19
NM_001382701.1:c.532dup	NP_001369630.1:p.Ile178AsnfsTer19
ENST00000290866.9:c.1384dup	ENSP00000290866.4:p.Ile462AsnfsTer19
ENST00000428043.5:c.1384dup	ENSP00000397593.2:p.Ile462AsnfsTer19
ENST00000582678.5:c.*783dup	ENSP00000462995.1:n.*783dup
ENST00000584529.5:n.1376+381dup
XM_005257110.1:c.835dup	XP_005257167.1:p.Ile279AsnfsTer19