Canonical Allele Identifier: CA2639261301

Gene: ACE

Linked Data

• gnomAD v4: 17-63483569-C-CCCCCCCCCCCCCCCCCCCCCCCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63483572_63483573insCCCCCCCCCCCCCCCCCCCGTCCC , CM000679.2:g.63483572_63483573insCCCCCCCCCCCCCCCCCCCGTCCC	GRCh38
NC_000017.10:g.61560933_61560934insCCCCCCCCCCCCCCCCCCCGTCCC , CM000679.1:g.61560933_61560934insCCCCCCCCCCCCCCCCCCCGTCCC	GRCh37
NC_000017.9:g.58914665_58914666insCCCCCCCCCCCCCCCCCCCGTCCC	NCBI36
NG_011648.1:g.11500_11501insCCCCCCCCCCCCCCCCCCCGTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1586+14_1586+15insCCCCCCCCCCCCCCCCCCCGTCCC MANE Select	ENSP00000290866.4:n.1586+14_1586+15insCCCCCCCCCCCCCCCCCCCGTCC...
ENST00000290866.9:c.1586+14_1586+15insCCCCCCCCCCCCCCCCCCCGTCCC	ENSP00000290866.4:n.1586+14_1586+15insCCCCCCCCCCCCCCCCCCCGTCC...
ENST00000428043.5:c.1586+14_1586+15insCCCCCCCCCCCCCCCCCCCGTCCC	ENSP00000397593.2:n.1586+14_1586+15insCCCCCCCCCCCCCCCCCCCGTCC...
ENST00000582678.5:c.*985+14_*985+15insCCCCCCCCCCCCCCCCCCCGTCCC	ENSP00000462995.1:n.*985+14_*985+15insCCCCCCCCCCCCCCCCCCCGTCC...
NM_000789.3:c.1586+14_1586+15insCCCCCCCCCCCCCCCCCCCGTCCC	NP_000780.1:n.1586+14_1586+15insCCCCCCCCCCCCCCCCCCCGTCCC
XM_005257110.1:c.1037+14_1037+15insCCCCCCCCCCCCCCCCCCCGTCCC	XP_005257167.1:n.1037+14_1037+15insCCCCCCCCCCCCCCCCCCCGTCCC
NM_000789.4:c.1586+14_1586+15insCCCCCCCCCCCCCCCCCCCGTCCC MANE Select	NP_000780.1:n.1586+14_1586+15insCCCCCCCCCCCCCCCCCCCGTCCC
NM_001382700.1:c.1019+14_1019+15insCCCCCCCCCCCCCCCCCCCGTCCC	NP_001369629.1:n.1019+14_1019+15insCCCCCCCCCCCCCCCCCCCGTCCC
NM_001382701.1:c.734+14_734+15insCCCCCCCCCCCCCCCCCCCGTCCC	NP_001369630.1:n.734+14_734+15insCCCCCCCCCCCCCCCCCCCGTCCC