Canonical Allele Identifier: CA773975098

Gene: ACE

Linked Data

• dbSNP Id: rs1382985362
• gnomAD v3: 17-63498237-ACACCT-A
• gnomAD v4: 17-63498237-ACACCT-A
• MyVariant Identifiers: chr17:g.61575599_61575603del (hg19) ; chr17:g.63498238_63498242del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498239_63498243del , CM000679.2:g.63498239_63498243del	GRCh38
NC_000017.10:g.61575600_61575604del , CM000679.1:g.61575600_61575604del	GRCh37
NC_000017.9:g.58929332_58929336del	NCBI36
NG_011648.1:g.26167_26171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*873_*877del MANE Select	ENSP00000290866.4:n.*873_*877del
ENST00000290866.9:c.*873_*877del	ENSP00000290866.4:n.*873_*877del
ENST00000428043.5:c.*1216_*1220del	ENSP00000397593.2:n.*1216_*1220del
ENST00000577647.2:c.1969+1254_1969+1258del	ENSP00000464149.1:n.1969+1254_1969+1258del
NM_000789.3:c.*873_*877del	NP_000780.1:n.*873_*877del
NM_001178057.1:c.*873_*877del	NP_001171528.1:n.*873_*877del
NM_152830.2:c.*873_*877del	NP_690043.1:n.*873_*877del
XM_005257110.1:c.*873_*877del	XP_005257167.1:n.*873_*877del
XM_006721737.2:c.*873_*877del	XP_006721800.2:n.*873_*877del
NM_000789.4:c.*873_*877del MANE Select	NP_000780.1:n.*873_*877del
NM_001178057.2:c.*873_*877del	NP_001171528.1:n.*873_*877del
NM_152830.3:c.*873_*877del	NP_690043.1:n.*873_*877del
NM_001382700.1:c.*873_*877del	NP_001369629.1:n.*873_*877del
NM_001382701.1:c.*873_*877del	NP_001369630.1:n.*873_*877del
NM_001382702.1:c.*873_*877del	NP_001369631.1:n.*873_*877del
NR_168483.1:n.3172_3176del