Canonical Allele Identifier: CA2639243691

Gene: ACE

Linked Data

• gnomAD v4: 17-63497188-T-TGGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497189_63497192dup , CM000679.2:g.63497189_63497192dup	GRCh38
NC_000017.10:g.61574550_61574553dup , CM000679.1:g.61574550_61574553dup	GRCh37
NC_000017.9:g.58928282_58928285dup	NCBI36
NG_011648.1:g.25117_25120dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3744_3747dup MANE Select	ENSP00000290866.4:p.Leu1250GlyfsTer?
ENST00000290863.10:c.2022_2025dup	ENSP00000290863.6:p.Leu676GlyfsTer?
ENST00000290866.9:c.3744_3747dup	ENSP00000290866.4:p.Leu1250GlyfsTer?
ENST00000413513.7:c.1899_1902dup	ENSP00000392247.3:p.Leu635GlyfsTer?
ENST00000428043.5:c.*166_*169dup	ENSP00000397593.2:n.*166_*169dup
ENST00000577647.2:c.1969+204_1969+207dup	ENSP00000464149.1:n.1969+204_1969+207dup
ENST00000578839.5:c.*1499_*1502dup	ENSP00000462110.2:n.*1499_*1502dup
ENST00000579314.5:c.*1473_*1476dup	ENSP00000462599.1:n.*1473_*1476dup
NM_000789.3:c.3744_3747dup	NP_000780.1:p.Leu1250GlyfsTer?
NM_001178057.1:c.1899_1902dup	NP_001171528.1:p.Leu635GlyfsTer?
NM_152830.2:c.2022_2025dup	NP_690043.1:p.Leu676GlyfsTer?
XM_005257110.1:c.3195_3198dup	XP_005257167.1:p.Leu1067GlyfsTer?
XM_006721737.2:c.2082_2085dup	XP_006721800.2:p.Leu696GlyfsTer?
XM_006721737.3:c.2082_2085dup	XP_006721800.2:p.Leu696GlyfsTer?
NM_000789.4:c.3744_3747dup MANE Select	NP_000780.1:p.Leu1250GlyfsTer?
NM_001178057.2:c.1899_1902dup	NP_001171528.1:p.Leu635GlyfsTer?
NM_152830.3:c.2022_2025dup	NP_690043.1:p.Leu676GlyfsTer?
NM_001382700.1:c.3177_3180dup	NP_001369629.1:p.Leu1061GlyfsTer?
NM_001382701.1:c.2892_2895dup	NP_001369630.1:p.Leu966GlyfsTer?
NM_001382702.1:c.1359_1362dup	NP_001369631.1:p.Leu455GlyfsTer?
NR_168483.1:n.2122_2125dup