Canonical Allele Identifier: CA2639237601

Gene: ACE

Linked Data

• gnomAD v4: 17-63478063-G-GGCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478064_63478067dup , CM000679.2:g.63478064_63478067dup	GRCh38
NC_000017.10:g.61555425_61555428dup , CM000679.1:g.61555425_61555428dup	GRCh37
NC_000017.9:g.58909157_58909160dup	NCBI36
NG_011648.1:g.5992_5995dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.383_386dup MANE Select	ENSP00000290866.4:p.Ala130LeufsTer8
ENST00000290866.9:c.383_386dup	ENSP00000290866.4:p.Ala130LeufsTer8
ENST00000428043.5:c.383_386dup	ENSP00000397593.2:p.Ala130LeufsTer8
ENST00000579462.1:n.408_411dup
ENST00000580318.1:n.572_575dup
ENST00000582627.1:c.383_386dup	ENSP00000462280.1:p.Ala130LeufsTer8
ENST00000582678.5:c.383_386dup	ENSP00000462995.1:p.Ala130LeufsTer8
ENST00000583336.5:n.417_420dup
ENST00000584529.5:n.417_420dup
NM_000789.3:c.383_386dup	NP_000780.1:p.Ala130LeufsTer8
XM_005257110.1:c.-73_-70dup	XP_005257167.1:n.-73_-70dup
NM_000789.4:c.383_386dup MANE Select	NP_000780.1:p.Ala130LeufsTer8
NM_001382700.1:c.148_151dup	NP_001369629.1:p.Leu51ArgfsTer?
NM_001382701.1:c.-232_-229dup	NP_001369630.1:n.-232_-229dup