Canonical Allele Identifier: CA8700046

Gene: ACE

Linked Data

• dbSNP Id: rs753214252
• ExAC: 17:61565981 G / GT
• gnomAD v2: 17-61565981-G-GT
• gnomAD v3: 17-63488620-G-GT
• gnomAD v4: 17-63488620-G-GT
• MyVariant Identifiers: chr17:g.61565981_61565982insT (hg19) ; chr17:g.63488620_63488621insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488620_63488621insT , CM000679.2:g.63488620_63488621insT	GRCh38
NC_000017.10:g.61565981_61565982insT , CM000679.1:g.61565981_61565982insT	GRCh37
NC_000017.9:g.58919713_58919714insT	NCBI36
NG_011648.1:g.16548_16549insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2306-28_2306-27insT MANE Select	ENSP00000290866.4:n.2306-28_2306-27insT
ENST00000290863.10:c.584-28_584-27insT	ENSP00000290863.6:n.584-28_584-27insT
ENST00000290866.9:c.2306-28_2306-27insT	ENSP00000290866.4:n.2306-28_2306-27insT
ENST00000413513.7:c.584-28_584-27insT	ENSP00000392247.3:n.584-28_584-27insT
ENST00000428043.5:c.2306-28_2306-27insT	ENSP00000397593.2:n.2306-28_2306-27insT
ENST00000577647.2:c.584-28_584-27insT	ENSP00000464149.1:n.584-28_584-27insT
ENST00000578839.5:c.*376-28_*376-27insT	ENSP00000462110.2:n.*376-28_*376-27insT
ENST00000579204.1:c.537_538insT	ENSP00000464629.1:n.537_538insT
ENST00000579314.5:c.*7_*8insT	ENSP00000462599.1:n.*7_*8insT
ENST00000582005.5:c.*226-28_*226-27insT	ENSP00000462002.1:n.*226-28_*226-27insT
ENST00000582761.1:c.74-28_74-27insT	ENSP00000462909.1:n.74-28_74-27insT
ENST00000584865.5:n.252-28_252-27insT
NM_000789.3:c.2306-28_2306-27insT	NP_000780.1:n.2306-28_2306-27insT
NM_001178057.1:c.584-28_584-27insT	NP_001171528.1:n.584-28_584-27insT
NM_152830.2:c.584-28_584-27insT	NP_690043.1:n.584-28_584-27insT
XM_005257110.1:c.1757-28_1757-27insT	XP_005257167.1:n.1757-28_1757-27insT
XM_006721737.2:c.644-28_644-27insT	XP_006721800.2:n.644-28_644-27insT
XM_006721737.3:c.644-28_644-27insT	XP_006721800.2:n.644-28_644-27insT
NM_000789.4:c.2306-28_2306-27insT MANE Select	NP_000780.1:n.2306-28_2306-27insT
NM_001178057.2:c.584-28_584-27insT	NP_001171528.1:n.584-28_584-27insT
NM_152830.3:c.584-28_584-27insT	NP_690043.1:n.584-28_584-27insT
NM_001382700.1:c.1739-28_1739-27insT	NP_001369629.1:n.1739-28_1739-27insT
NM_001382701.1:c.1454-28_1454-27insT	NP_001369630.1:n.1454-28_1454-27insT
NM_001382702.1:c.236-28_236-27insT	NP_001369631.1:n.236-28_236-27insT
NR_168483.1:n.656_657insT