Canonical Allele Identifier: CA626842687

Gene: ACE

Linked Data

• dbSNP Id: rs1383091945
• gnomAD v2: 17-61561159-CCT-C
• gnomAD v4: 17-63483798-CCT-C
• MyVariant Identifiers: chr17:g.61561160_61561161del (hg19) ; chr17:g.63483799_63483800del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63483799_63483800del , CM000679.2:g.63483799_63483800del	GRCh38
NC_000017.10:g.61561160_61561161del , CM000679.1:g.61561160_61561161del	GRCh37
NC_000017.9:g.58914892_58914893del	NCBI36
NG_011648.1:g.11727_11728del

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.1587-50_1587-49del MANE Select	ENSP00000290866.4:n.1587-50_1587-49del
ENST00000290866.9:c.1587-50_1587-49del	ENSP00000290866.4:n.1587-50_1587-49del
ENST00000428043.5:c.1587-50_1587-49del	ENSP00000397593.2:n.1587-50_1587-49del
ENST00000582678.5:c.*986-50_*986-49del	ENSP00000462995.1:n.*986-50_*986-49del
NM_000789.3:c.1587-50_1587-49del	NP_000780.1:n.1587-50_1587-49del
XM_005257110.1:c.1038-50_1038-49del	XP_005257167.1:n.1038-50_1038-49del
NM_000789.4:c.1587-50_1587-49del MANE Select	NP_000780.1:n.1587-50_1587-49del
NM_001382700.1:c.1020-50_1020-49del	NP_001369629.1:n.1020-50_1020-49del
NM_001382701.1:c.735-50_735-49del	NP_001369630.1:n.735-50_735-49del