Canonical Allele Identifier: CA8698934

Gene: ACE

Linked Data

• ClinVar Variation Id: 324358
• ClinVar RCV Id: RCV000347686 ; RCV002056613
• dbSNP Id: rs532691783
• ExAC: 17:61554493 T / TGCTGCC
• gnomAD v2: 17-61554493-T-TGCTGCC
• gnomAD v3: 17-63477132-T-TGCTGCC
• gnomAD v4: 17-63477132-T-TGCTGCC
• MyVariant Identifiers: chr17:g.61554505_61554510dupCGCTGC (hg19) ; chr17:g.61554499_61554500insGCTGCC (hg19) ; chr17:g.61554493_61554494insGCTGCC (hg19) ; chr17:g.63477144_63477149dupCGCTGC (hg38) ; chr17:g.63477132_63477133insGCTGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477144_63477149dup , CM000679.2:g.63477144_63477149dup	GRCh38
NC_000017.10:g.61554505_61554510dup , CM000679.1:g.61554505_61554510dup	GRCh37
NC_000017.9:g.58908237_58908242dup	NCBI36
NG_011648.1:g.5072_5077dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.50_55dup MANE Select	ENSP00000290866.4:p.Leu18_Leu19insProLeu
ENST00000290866.9:c.50_55dup	ENSP00000290866.4:p.Leu18_Leu19insProLeu
ENST00000428043.5:c.50_55dup	ENSP00000397593.2:p.Leu18_Leu19insProLeu
ENST00000579462.1:n.75_80dup
ENST00000582678.5:c.50_55dup	ENSP00000462995.1:p.Leu18_Leu19insProLeu
ENST00000583336.5:n.84_89dup
ENST00000584529.5:n.84_89dup
NM_000789.3:c.50_55dup	NP_000780.1:p.Leu18_Leu19insProLeu
XM_005257110.1:c.-406_-401dup	XP_005257167.1:n.-406_-401dup
NM_000789.4:c.50_55dup MANE Select	NP_000780.1:p.Leu18_Leu19insProLeu
NM_001382700.1:c.-186_-181dup	NP_001369629.1:n.-186_-181dup
NM_001382701.1:c.-565_-560dup	NP_001369630.1:n.-565_-560dup