Canonical Allele Identifier: CA627148268

Gene: ACE

Linked Data

• ClinVar Variation Id: 632285
• ClinVar RCV Id: RCV000779227 ; RCV001731922
• dbSNP Id: rs1219522144
• gnomAD v2: 17-61564006-CTA-C
• gnomAD v4: 17-63486645-CTA-C
• MyVariant Identifiers: chr17:g.61564007_61564008del (hg19) ; chr17:g.63486646_63486647del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486647_63486648del , CM000679.2:g.63486647_63486648del	GRCh38
NC_000017.10:g.61564008_61564009del , CM000679.1:g.61564008_61564009del	GRCh37
NC_000017.9:g.58917740_58917741del	NCBI36
NG_011648.1:g.14575_14576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2149_2150del MANE Select	ENSP00000290866.4:p.Ile717GlnfsTer?
ENST00000290863.10:c.427_428del	ENSP00000290863.6:p.Ile143GlnfsTer?
ENST00000290866.9:c.2149_2150del	ENSP00000290866.4:p.Ile717GlnfsTer?
ENST00000413513.7:c.427_428del	ENSP00000392247.3:p.Ile143GlnfsTer?
ENST00000428043.5:c.2149_2150del	ENSP00000397593.2:p.Ile717GlnfsTer?
ENST00000577647.2:c.427_428del	ENSP00000464149.1:p.Ile143GlnfsTer?
ENST00000578839.5:c.*219_*220del	ENSP00000462110.2:n.*219_*220del
ENST00000579204.1:c.330_331del	ENSP00000464629.1:n.330_331del
ENST00000579314.5:c.427_428del	ENSP00000462599.1:p.Ile143GlnfsTer?
ENST00000579726.5:c.711_712del
ENST00000582005.5:c.*69_*70del	ENSP00000462002.1:n.*69_*70del
NM_000789.3:c.2149_2150del	NP_000780.1:p.Ile717GlnfsTer?
NM_001178057.1:c.427_428del	NP_001171528.1:p.Ile143GlnfsTer?
NM_152830.2:c.427_428del	NP_690043.1:p.Ile143GlnfsTer?
XM_005257110.1:c.1600_1601del	XP_005257167.1:p.Ile534GlnfsTer?
XM_006721737.2:c.487_488del	XP_006721800.2:p.Ile163GlnfsTer?
XM_006721737.3:c.487_488del	XP_006721800.2:p.Ile163GlnfsTer?
NM_000789.4:c.2149_2150del MANE Select	NP_000780.1:p.Ile717GlnfsTer?
NM_001178057.2:c.427_428del	NP_001171528.1:p.Ile143GlnfsTer?
NM_152830.3:c.427_428del	NP_690043.1:p.Ile143GlnfsTer?
NM_001382700.1:c.1582_1583del	NP_001369629.1:p.Ile528GlnfsTer?
NM_001382701.1:c.1297_1298del	NP_001369630.1:p.Ile433GlnfsTer?
NM_001382702.1:c.79_80del	NP_001369631.1:p.Ile27GlnfsTer?
NR_168483.1:n.449_450del