Canonical Allele Identifier: CA2269939729

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477152_63477163delinsTTGCTGCTGCCG , CM000679.2:g.63477152_63477163delinsTTGCTGCTGCCG	GRCh38
NC_000017.10:g.61554513_61554524delinsTTGCTGCTGCCG , CM000679.1:g.61554513_61554524delinsTTGCTGCTGCCG	GRCh37
NC_000017.9:g.58908245_58908256delinsTTGCTGCTGCCG	NCBI36
NG_011648.1:g.5080_5091delinsTTGCTGCTGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.58_69delinsTTGCTGCTGCCG MANE Select	ENSP00000290866.4:p.Leu20=
ENST00000290866.9:c.58_69delinsTTGCTGCTGCCG	ENSP00000290866.4:p.Leu20=
ENST00000428043.5:c.58_69delinsTTGCTGCTGCCG	ENSP00000397593.2:p.Leu20=
ENST00000579462.1:n.83_94delinsTTGCTGCTGCCG
ENST00000582678.5:c.58_69delinsTTGCTGCTGCCG	ENSP00000462995.1:p.Leu20=
ENST00000583336.5:n.92_103delinsTTGCTGCTGCCG
ENST00000584529.5:n.92_103delinsTTGCTGCTGCCG
NM_000789.3:c.58_69delinsTTGCTGCTGCCG	NP_000780.1:p.Leu20=
XM_005257110.1:c.-398_-387delinsTTGCTGCTGCCG	XP_005257167.1:n.-398_-387delinsTTGCTGCTGCCG
NM_000789.4:c.58_69delinsTTGCTGCTGCCG MANE Select	NP_000780.1:p.Leu20=
NM_001382700.1:c.-178_-167delinsTTGCTGCTGCCG	NP_001369629.1:n.-178_-167delinsTTGCTGCTGCCG
NM_001382701.1:c.-557_-546delinsTTGCTGCTGCCG	NP_001369630.1:n.-557_-546delinsTTGCTGCTGCCG