Canonical Allele Identifier: CA2810114073

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477265_63477286dup , CM000679.2:g.63477265_63477286dup	GRCh38
NC_000017.10:g.61554626_61554647dup , CM000679.1:g.61554626_61554647dup	GRCh37
NC_000017.9:g.58908358_58908379dup	NCBI36
NG_011648.1:g.5193_5214dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.171_192dup MANE Select	ENSP00000290866.4:p.Val65ArgfsTer?
ENST00000290866.9:c.171_192dup	ENSP00000290866.4:p.Val65ArgfsTer?
ENST00000428043.5:c.171_192dup	ENSP00000397593.2:p.Val65ArgfsTer?
ENST00000579462.1:n.196_217dup
ENST00000582678.5:c.171_192dup	ENSP00000462995.1:p.Val65ArgfsTer?
ENST00000583336.5:n.205_226dup
ENST00000584529.5:n.205_226dup
NM_000789.3:c.171_192dup	NP_000780.1:p.Val65ArgfsTer?
XM_005257110.1:c.-285_-264dup	XP_005257167.1:n.-285_-264dup
NM_000789.4:c.171_192dup MANE Select	NP_000780.1:p.Val65ArgfsTer?
NM_001382700.1:c.-65_-44dup	NP_001369629.1:n.-65_-44dup
NM_001382701.1:c.-444_-423dup	NP_001369630.1:n.-444_-423dup