Canonical Allele Identifier: CA2639255403

Gene: ACE

Linked Data

• gnomAD v4: 17-63483567-G-GCGGGGGGGGGCGGCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63483568_63483569insGGGGGGGGGCGGCCCCCCCCC , CM000679.2:g.63483568_63483569insGGGGGGGGGCGGCCCCCCCCC	GRCh38
NC_000017.10:g.61560929_61560930insGGGGGGGGGCGGCCCCCCCCC , CM000679.1:g.61560929_61560930insGGGGGGGGGCGGCCCCCCCCC	GRCh37
NC_000017.9:g.58914661_58914662insGGGGGGGGGCGGCCCCCCCCC	NCBI36
NG_011648.1:g.11496_11497insGGGGGGGGGCGGCCCCCCCCC

Transcript Alleles

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