Canonical Allele Identifier: CA8700531

Gene: ACE

Linked Data

• dbSNP Id: rs764419348
• ExAC: 17:61574141 T / TGTCTCATGCCTCCCC
• gnomAD v4: 17-63496780-T-TGTCTCATGCCTCCCC
• MyVariant Identifiers: chr17:g.61574141_61574142insGTCTCATGCCTCCCC (hg19) ; chr17:g.63496780_63496781insGTCTCATGCCTCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496781_63496795dup , CM000679.2:g.63496781_63496795dup	GRCh38
NC_000017.10:g.61574142_61574156dup , CM000679.1:g.61574142_61574156dup	GRCh37
NC_000017.9:g.58927874_58927888dup	NCBI36
NG_011648.1:g.24709_24723dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3504-17_3504-3dup MANE Select	ENSP00000290866.4:n.3504-17_3504-3dup
ENST00000290863.10:c.1782-17_1782-3dup	ENSP00000290863.6:n.1782-17_1782-3dup
ENST00000290866.9:c.3504-17_3504-3dup	ENSP00000290866.4:n.3504-17_3504-3dup
ENST00000413513.7:c.1659-17_1659-3dup	ENSP00000392247.3:n.1659-17_1659-3dup
ENST00000428043.5:c.3504-17_3504-3dup	ENSP00000397593.2:n.3504-17_3504-3dup
ENST00000577418.5:n.514-17_514-3dup
ENST00000577647.2:c.1782-17_1782-3dup	ENSP00000464149.1:n.1782-17_1782-3dup
ENST00000578839.5:c.*1259-17_*1259-3dup	ENSP00000462110.2:n.*1259-17_*1259-3dup
ENST00000579314.5:c.*1233-17_*1233-3dup	ENSP00000462599.1:n.*1233-17_*1233-3dup
ENST00000579409.1:c.191-17_191-3dup
ENST00000582244.1:n.378-17_378-3dup
NM_000789.3:c.3504-17_3504-3dup	NP_000780.1:n.3504-17_3504-3dup
NM_001178057.1:c.1659-17_1659-3dup	NP_001171528.1:n.1659-17_1659-3dup
NM_152830.2:c.1782-17_1782-3dup	NP_690043.1:n.1782-17_1782-3dup
XM_005257110.1:c.2955-17_2955-3dup	XP_005257167.1:n.2955-17_2955-3dup
XM_006721737.2:c.1842-17_1842-3dup	XP_006721800.2:n.1842-17_1842-3dup
XM_006721737.3:c.1842-17_1842-3dup	XP_006721800.2:n.1842-17_1842-3dup
NM_000789.4:c.3504-17_3504-3dup MANE Select	NP_000780.1:n.3504-17_3504-3dup
NM_001178057.2:c.1659-17_1659-3dup	NP_001171528.1:n.1659-17_1659-3dup
NM_152830.3:c.1782-17_1782-3dup	NP_690043.1:n.1782-17_1782-3dup
NM_001382700.1:c.2937-17_2937-3dup	NP_001369629.1:n.2937-17_2937-3dup
NM_001382701.1:c.2652-17_2652-3dup	NP_001369630.1:n.2652-17_2652-3dup
NM_001382702.1:c.1119-17_1119-3dup	NP_001369631.1:n.1119-17_1119-3dup
NR_168483.1:n.1882-17_1882-3dup