Canonical Allele Identifier: CA773988959

Gene: ACE

Linked Data

• dbSNP Id: rs1259092523
• gnomAD v3: 17-63477664-TCACCGC-T
• gnomAD v4: 17-63477664-TCACCGC-T
• MyVariant Identifiers: chr17:g.61555026_61555031del (hg19) ; chr17:g.63477665_63477670del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477665_63477670del , CM000679.2:g.63477665_63477670del	GRCh38
NC_000017.10:g.61555026_61555031del , CM000679.1:g.61555026_61555031del	GRCh37
NC_000017.9:g.58908758_58908763del	NCBI36
NG_011648.1:g.5593_5598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.250-266_250-261del MANE Select	ENSP00000290866.4:n.250-266_250-261del
ENST00000290866.9:c.250-266_250-261del	ENSP00000290866.4:n.250-266_250-261del
ENST00000428043.5:c.250-266_250-261del	ENSP00000397593.2:n.250-266_250-261del
ENST00000579462.1:n.275-266_275-261del
ENST00000580318.1:n.173_178del
ENST00000582627.1:c.124_129del	ENSP00000462280.1:p.His42_Arg43del
ENST00000582678.5:c.250-266_250-261del	ENSP00000462995.1:n.250-266_250-261del
ENST00000583336.5:n.284-266_284-261del
ENST00000584529.5:n.284-266_284-261del
NM_000789.3:c.250-266_250-261del	NP_000780.1:n.250-266_250-261del
XM_005257110.1:c.-206-266_-206-261del	XP_005257167.1:n.-206-266_-206-261del
NM_000789.4:c.250-266_250-261del MANE Select	NP_000780.1:n.250-266_250-261del
NM_001382700.1:c.15-266_15-261del	NP_001369629.1:n.15-266_15-261del
NM_001382701.1:c.-365-266_-365-261del	NP_001369630.1:n.-365-266_-365-261del