Canonical Allele Identifier: CA2639259650

Gene: ACE

Linked Data

• gnomAD v4: 17-63483567-G-GCGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63483568_63483569insGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCACC , CM000679.2:g.63483568_63483569insGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCACC	GRCh38
NC_000017.10:g.61560929_61560930insGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCACC , CM000679.1:g.61560929_61560930insGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCACC	GRCh37
NC_000017.9:g.58914661_58914662insGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCACC	NCBI36
NG_011648.1:g.11496_11497insGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1586+10_1586+11insGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCACC MANE Select	ENSP00000290866.4:n.1586+10_1586+11insGGGGGGGCCCCCCCCCCCCCCCC...
ENST00000290866.9:c.1586+10_1586+11insGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCACC	ENSP00000290866.4:n.1586+10_1586+11insGGGGGGGCCCCCCCCCCCCCCCC...
ENST00000428043.5:c.1586+10_1586+11insGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCACC	ENSP00000397593.2:n.1586+10_1586+11insGGGGGGGCCCCCCCCCCCCCCCC...
ENST00000582678.5:c.*985+10_*985+11insGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCACC	ENSP00000462995.1:n.*985+10_*985+11insGGGGGGGCCCCCCCCCCCCCCCC...
NM_000789.3:c.1586+10_1586+11insGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCACC	NP_000780.1:n.1586+10_1586+11insGGGGGGGCCCCCCCCCCCCCCCCCCCCCC...
XM_005257110.1:c.1037+10_1037+11insGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCACC	XP_005257167.1:n.1037+10_1037+11insGGGGGGGCCCCCCCCCCCCCCCCCCC...
NM_000789.4:c.1586+10_1586+11insGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCACC MANE Select	NP_000780.1:n.1586+10_1586+11insGGGGGGGCCCCCCCCCCCCCCCCCCCCCC...
NM_001382700.1:c.1019+10_1019+11insGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCACC	NP_001369629.1:n.1019+10_1019+11insGGGGGGGCCCCCCCCCCCCCCCCCCC...
NM_001382701.1:c.734+10_734+11insGGGGGGGCCCCCCCCCCCCCCCCCCCCCCCCACC	NP_001369630.1:n.734+10_734+11insGGGGGGGCCCCCCCCCCCCCCCCCCCCC...