Canonical Allele Identifier: CA985411210

Gene: ACE

Linked Data

• dbSNP Id: rs2030113186
• gnomAD v3: 17-63488367-A-AGC
• gnomAD v4: 17-63488367-A-AGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488367_63488368insGC , CM000679.2:g.63488367_63488368insGC	GRCh38
NC_000017.10:g.61565728_61565729insGC , CM000679.1:g.61565728_61565729insGC	GRCh37
NC_000017.9:g.58919460_58919461insGC	NCBI36
NG_011648.1:g.16295_16296insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2306-281_2306-280insGC MANE Select	ENSP00000290866.4:n.2306-281_2306-280insGC
ENST00000290863.10:c.584-281_584-280insGC	ENSP00000290863.6:n.584-281_584-280insGC
ENST00000290866.9:c.2306-281_2306-280insGC	ENSP00000290866.4:n.2306-281_2306-280insGC
ENST00000413513.7:c.584-281_584-280insGC	ENSP00000392247.3:n.584-281_584-280insGC
ENST00000428043.5:c.2306-281_2306-280insGC	ENSP00000397593.2:n.2306-281_2306-280insGC
ENST00000577647.2:c.584-281_584-280insGC	ENSP00000464149.1:n.584-281_584-280insGC
ENST00000578839.5:c.*376-281_*376-280insGC	ENSP00000462110.2:n.*376-281_*376-280insGC
ENST00000579204.1:c.487-203_487-202insGC	ENSP00000464629.1:n.487-203_487-202insGC
ENST00000579314.5:c.584-203_584-202insGC	ENSP00000462599.1:n.584-203_584-202insGC
ENST00000582005.5:c.*226-281_*226-280insGC	ENSP00000462002.1:n.*226-281_*226-280insGC
ENST00000582761.1:c.74-281_74-280insGC	ENSP00000462909.1:n.74-281_74-280insGC
ENST00000584865.5:n.252-281_252-280insGC
NM_000789.3:c.2306-281_2306-280insGC	NP_000780.1:n.2306-281_2306-280insGC
NM_001178057.1:c.584-281_584-280insGC	NP_001171528.1:n.584-281_584-280insGC
NM_152830.2:c.584-281_584-280insGC	NP_690043.1:n.584-281_584-280insGC
XM_005257110.1:c.1757-281_1757-280insGC	XP_005257167.1:n.1757-281_1757-280insGC
XM_006721737.2:c.644-281_644-280insGC	XP_006721800.2:n.644-281_644-280insGC
XM_006721737.3:c.644-281_644-280insGC	XP_006721800.2:n.644-281_644-280insGC
NM_000789.4:c.2306-281_2306-280insGC MANE Select	NP_000780.1:n.2306-281_2306-280insGC
NM_001178057.2:c.584-281_584-280insGC	NP_001171528.1:n.584-281_584-280insGC
NM_152830.3:c.584-281_584-280insGC	NP_690043.1:n.584-281_584-280insGC
NM_001382700.1:c.1739-281_1739-280insGC	NP_001369629.1:n.1739-281_1739-280insGC
NM_001382701.1:c.1454-281_1454-280insGC	NP_001369630.1:n.1454-281_1454-280insGC
NM_001382702.1:c.236-281_236-280insGC	NP_001369631.1:n.236-281_236-280insGC
NR_168483.1:n.606-203_606-202insGC