Canonical Allele Identifier: CA985408757

Gene: ACE

Linked Data

• gnomAD v3: 17-63483587-CAGTACTGTCACACCCTCAATCCACTTCTCCTCCTGTGATCCTAGCTGCCTCATCCCCAGGGCTTGTCCCCATGCTCCTCCAGACCTCAAAGGCCTGGAGTTAGAGTGG-C
• gnomAD v4: 17-63483587-CAGTACTGTCACACCCTCAATCCACTTCTCCTCCTGTGATCCTAGCTGCCTCATCCCCAGGGCTTGTCCCCATGCTCCTCCAGACCTCAAAGGCCTGGAGTTAGAGTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63483588_63483695del , CM000679.2:g.63483588_63483695del	GRCh38
NC_000017.10:g.61560949_61561056del , CM000679.1:g.61560949_61561056del	GRCh37
NC_000017.9:g.58914681_58914788del	NCBI36
NG_011648.1:g.11516_11623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1586+30_1586+137del MANE Select	ENSP00000290866.4:n.1586+30_1586+137del
ENST00000290866.9:c.1586+30_1586+137del	ENSP00000290866.4:n.1586+30_1586+137del
ENST00000428043.5:c.1586+30_1586+137del	ENSP00000397593.2:n.1586+30_1586+137del
ENST00000582678.5:c.*985+30_*985+137del	ENSP00000462995.1:n.*985+30_*985+137del
NM_000789.3:c.1586+30_1586+137del	NP_000780.1:n.1586+30_1586+137del
XM_005257110.1:c.1037+30_1037+137del	XP_005257167.1:n.1037+30_1037+137del
NM_000789.4:c.1586+30_1586+137del MANE Select	NP_000780.1:n.1586+30_1586+137del
NM_001382700.1:c.1019+30_1019+137del	NP_001369629.1:n.1019+30_1019+137del
NM_001382701.1:c.734+30_734+137del	NP_001369630.1:n.734+30_734+137del