Canonical Allele Identifier: CA919875852

Gene: ACE

Linked Data

• dbSNP Id: rs1568042920
• gnomAD v4: 17-63488635-AAACCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488636_63488640del , CM000679.2:g.63488636_63488640del	GRCh38
NC_000017.10:g.61565997_61566001del , CM000679.1:g.61565997_61566001del	GRCh37
NC_000017.9:g.58919729_58919733del	NCBI36
NG_011648.1:g.16564_16568del

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2306-12_2306-8del MANE Select	ENSP00000290866.4:n.2306-12_2306-8del
ENST00000290863.10:c.584-12_584-8del	ENSP00000290863.6:n.584-12_584-8del
ENST00000290866.9:c.2306-12_2306-8del	ENSP00000290866.4:n.2306-12_2306-8del
ENST00000413513.7:c.584-12_584-8del	ENSP00000392247.3:n.584-12_584-8del
ENST00000428043.5:c.2306-12_2306-8del	ENSP00000397593.2:n.2306-12_2306-8del
ENST00000577647.2:c.584-12_584-8del	ENSP00000464149.1:n.584-12_584-8del
ENST00000578839.5:c.*376-12_*376-8del	ENSP00000462110.2:n.*376-12_*376-8del
ENST00000579204.1:c.553_557del	ENSP00000464629.1:n.553_557del
ENST00000579314.5:c.*23_*27del	ENSP00000462599.1:n.*23_*27del
ENST00000582005.5:c.*226-12_*226-8del	ENSP00000462002.1:n.*226-12_*226-8del
ENST00000582761.1:c.74-12_74-8del	ENSP00000462909.1:n.74-12_74-8del
ENST00000584865.5:n.252-12_252-8del
NM_000789.3:c.2306-12_2306-8del	NP_000780.1:n.2306-12_2306-8del
NM_001178057.1:c.584-12_584-8del	NP_001171528.1:n.584-12_584-8del
NM_152830.2:c.584-12_584-8del	NP_690043.1:n.584-12_584-8del
XM_005257110.1:c.1757-12_1757-8del	XP_005257167.1:n.1757-12_1757-8del
XM_006721737.2:c.644-12_644-8del	XP_006721800.2:n.644-12_644-8del
XM_006721737.3:c.644-12_644-8del	XP_006721800.2:n.644-12_644-8del
NM_000789.4:c.2306-12_2306-8del MANE Select	NP_000780.1:n.2306-12_2306-8del
NM_001178057.2:c.584-12_584-8del	NP_001171528.1:n.584-12_584-8del
NM_152830.3:c.584-12_584-8del	NP_690043.1:n.584-12_584-8del
NM_001382700.1:c.1739-12_1739-8del	NP_001369629.1:n.1739-12_1739-8del
NM_001382701.1:c.1454-12_1454-8del	NP_001369630.1:n.1454-12_1454-8del
NM_001382702.1:c.236-12_236-8del	NP_001369631.1:n.236-12_236-8del
NR_168483.1:n.672_676del