Canonical Allele Identifier: CA773974843

Gene: ACE

Linked Data

• dbSNP Id: rs1290510648
• gnomAD v3: 17-63497958-A-AG
• gnomAD v4: 17-63497958-A-AG
• MyVariant Identifiers: chr17:g.61575319_61575320insG (hg19) ; chr17:g.63497958_63497959insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497962dup , CM000679.2:g.63497962dup	GRCh38
NC_000017.10:g.61575323dup , CM000679.1:g.61575323dup	GRCh37
NC_000017.9:g.58929055dup	NCBI36
NG_011648.1:g.25890dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*596dup MANE Select	ENSP00000290866.4:n.*596dup
ENST00000290866.9:c.*596dup	ENSP00000290866.4:n.*596dup
ENST00000428043.5:c.*939dup	ENSP00000397593.2:n.*939dup
ENST00000577647.2:c.1969+977dup	ENSP00000464149.1:n.1969+977dup
NM_000789.3:c.*596dup	NP_000780.1:n.*596dup
NM_001178057.1:c.*596dup	NP_001171528.1:n.*596dup
NM_152830.2:c.*596dup	NP_690043.1:n.*596dup
XM_005257110.1:c.*596dup	XP_005257167.1:n.*596dup
XM_006721737.2:c.*596dup	XP_006721800.2:n.*596dup
NM_000789.4:c.*596dup MANE Select	NP_000780.1:n.*596dup
NM_001178057.2:c.*596dup	NP_001171528.1:n.*596dup
NM_152830.3:c.*596dup	NP_690043.1:n.*596dup
NM_001382700.1:c.*596dup	NP_001369629.1:n.*596dup
NM_001382701.1:c.*596dup	NP_001369630.1:n.*596dup
NM_001382702.1:c.*596dup	NP_001369631.1:n.*596dup
NR_168483.1:n.2895dup