Canonical Allele Identifier: CA1139665802

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63483047del , CM000679.2:g.63483047del	GRCh38
NC_000017.10:g.61560408del , CM000679.1:g.61560408del	GRCh37
NC_000017.9:g.58914140del	NCBI36
NG_011648.1:g.10975del

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.1361del MANE Select	NP_000780.1:p.Leu454CysfsTer2
ENST00000290866.10:c.1361del MANE Select	ENSP00000290866.4:p.Leu454CysfsTer2
NM_000789.3:c.1361del	NP_000780.1:p.Leu454CysfsTer2
NM_001382700.1:c.794del	NP_001369629.1:p.Leu265CysfsTer2
NM_001382701.1:c.509del	NP_001369630.1:p.Leu170CysfsTer2
ENST00000290866.9:c.1361del	ENSP00000290866.4:p.Leu454CysfsTer2
ENST00000428043.5:c.1361del	ENSP00000397593.2:p.Leu454CysfsTer2
ENST00000582678.5:c.*760del	ENSP00000462995.1:n.*760del
ENST00000584529.5:n.1376+358del
XM_005257110.1:c.812del	XP_005257167.1:p.Leu271CysfsTer2