Canonical Allele Identifier: CA2639237596

Gene: ACE

Linked Data

• gnomAD v4: 17-63477939-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477940del , CM000679.2:g.63477940del	GRCh38
NC_000017.10:g.61555301del , CM000679.1:g.61555301del	GRCh37
NC_000017.9:g.58909033del	NCBI36
NG_011648.1:g.5868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.259del MANE Select	ENSP00000290866.4:p.Ala87ProfsTer?
ENST00000290866.9:c.259del	ENSP00000290866.4:p.Ala87ProfsTer?
ENST00000428043.5:c.259del	ENSP00000397593.2:p.Ala87ProfsTer?
ENST00000579462.1:n.284del
ENST00000580318.1:n.448del
ENST00000582627.1:c.259del	ENSP00000462280.1:p.Ala87ProfsTer?
ENST00000582678.5:c.259del	ENSP00000462995.1:p.Ala87ProfsTer?
ENST00000583336.5:n.293del
ENST00000584529.5:n.293del
NM_000789.3:c.259del	NP_000780.1:p.Ala87ProfsTer?
XM_005257110.1:c.-197del	XP_005257167.1:n.-197del
NM_000789.4:c.259del MANE Select	NP_000780.1:p.Ala87ProfsTer?
NM_001382700.1:c.24del	NP_001369629.1:p.Gln8HisfsTer20
NM_001382701.1:c.-356del	NP_001369630.1:n.-356del