Canonical Allele Identifier: CA8700541

Gene: ACE

Linked Data

• ClinVar Variation Id: 998355
• ClinVar RCV Id: RCV001336990 ; RCV002493546 ; RCV004548131
• dbSNP Id: rs754265941
• ExAC: 17:61574173 TG / T
• gnomAD v2: 17-61574173-TG-T
• gnomAD v3: 17-63496812-TG-T
• gnomAD v4: 17-63496812-TG-T
• MyVariant Identifiers: chr17:g.61574174del (hg19) ; chr17:g.63496814del (hg38) ; chr17:g.63496813del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496815del , CM000679.2:g.63496815del	GRCh38
NC_000017.10:g.61574176del , CM000679.1:g.61574176del	GRCh37
NC_000017.9:g.58927908del	NCBI36
NG_011648.1:g.24743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3521del MANE Select	ENSP00000290866.4:p.Gly1174AlafsTer12
ENST00000290863.10:c.1799del	ENSP00000290863.6:p.Gly600AlafsTer12
ENST00000290866.9:c.3521del	ENSP00000290866.4:p.Gly1174AlafsTer12
ENST00000413513.7:c.1676del	ENSP00000392247.3:p.Gly559AlafsTer12
ENST00000428043.5:c.3521del	ENSP00000397593.2:p.Gly1174AlafsTer12
ENST00000577418.5:n.531del
ENST00000577647.2:c.1799del	ENSP00000464149.1:p.Gly600AlafsTer12
ENST00000578839.5:c.*1276del	ENSP00000462110.2:n.*1276del
ENST00000579314.5:c.*1250del	ENSP00000462599.1:n.*1250del
ENST00000579409.1:c.208del
ENST00000582244.1:n.395del
NM_000789.3:c.3521del	NP_000780.1:p.Gly1174AlafsTer12
NM_001178057.1:c.1676del	NP_001171528.1:p.Gly559AlafsTer12
NM_152830.2:c.1799del	NP_690043.1:p.Gly600AlafsTer12
XM_005257110.1:c.2972del	XP_005257167.1:p.Gly991AlafsTer12
XM_006721737.2:c.1859del	XP_006721800.2:p.Gly620AlafsTer12
XM_006721737.3:c.1859del	XP_006721800.2:p.Gly620AlafsTer12
NM_000789.4:c.3521del MANE Select	NP_000780.1:p.Gly1174AlafsTer12
NM_001178057.2:c.1676del	NP_001171528.1:p.Gly559AlafsTer12
NM_152830.3:c.1799del	NP_690043.1:p.Gly600AlafsTer12
NM_001382700.1:c.2954del	NP_001369629.1:p.Gly985AlafsTer12
NM_001382701.1:c.2669del	NP_001369630.1:p.Gly890AlafsTer12
NM_001382702.1:c.1136del	NP_001369631.1:p.Gly379AlafsTer12
NR_168483.1:n.1899del