Canonical Allele Identifier: CA2639237600

Gene: ACE

Linked Data

• gnomAD v4: 17-63478061-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478064del , CM000679.2:g.63478064del	GRCh38
NC_000017.10:g.61555425del , CM000679.1:g.61555425del	GRCh37
NC_000017.9:g.58909157del	NCBI36
NG_011648.1:g.5992del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.383del MANE Select	ENSP00000290866.4:p.Gly128AlafsTer17
ENST00000290866.9:c.383del	ENSP00000290866.4:p.Gly128AlafsTer17
ENST00000428043.5:c.383del	ENSP00000397593.2:p.Gly128AlafsTer17
ENST00000579462.1:n.408del
ENST00000580318.1:n.572del
ENST00000582627.1:c.383del	ENSP00000462280.1:p.Gly128AlafsTer17
ENST00000582678.5:c.383del	ENSP00000462995.1:p.Gly128AlafsTer?
ENST00000583336.5:n.417del
ENST00000584529.5:n.417del
NM_000789.3:c.383del	NP_000780.1:p.Gly128AlafsTer17
XM_005257110.1:c.-73del	XP_005257167.1:n.-73del
NM_000789.4:c.383del MANE Select	NP_000780.1:p.Gly128AlafsTer17
NM_001382700.1:c.148del	NP_001369629.1:p.Ala50LeufsTer8
NM_001382701.1:c.-232del	NP_001369630.1:n.-232del