Canonical Allele Identifier: CA10646409

Gene: ACE

Linked Data

• ClinVar Variation Id: 324439
• ClinVar RCV Id: RCV000368979
• dbSNP Id: rs539209743
• gnomAD v2: 17-61575702-AAAG-A
• gnomAD v3: 17-63498341-AAAG-A
• gnomAD v4: 17-63498341-AAAG-A
• MyVariant Identifiers: chr17:g.61575705_61575707del (hg19) ; chr17:g.61575703_61575705del (hg19) ; chr17:g.63498344_63498346del (hg38) ; chr17:g.63498342_63498344del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498344_63498346del , CM000679.2:g.63498344_63498346del	GRCh38
NC_000017.10:g.61575705_61575707del , CM000679.1:g.61575705_61575707del	GRCh37
NC_000017.9:g.58929437_58929439del	NCBI36
NG_011648.1:g.26272_26274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*978_*980del MANE Select	ENSP00000290866.4:n.*978_*980del
ENST00000290866.9:c.*978_*980del	ENSP00000290866.4:n.*978_*980del
ENST00000428043.5:c.*1321_*1323del	ENSP00000397593.2:n.*1321_*1323del
ENST00000577647.2:c.1969+1359_1969+1361del	ENSP00000464149.1:n.1969+1359_1969+1361del
NM_000789.3:c.*978_*980del	NP_000780.1:n.*978_*980del
NM_001178057.1:c.*978_*980del	NP_001171528.1:n.*978_*980del
NM_152830.2:c.*978_*980del	NP_690043.1:n.*978_*980del
XM_005257110.1:c.*978_*980del	XP_005257167.1:n.*978_*980del
XM_006721737.2:c.*978_*980del	XP_006721800.2:n.*978_*980del
NM_000789.4:c.*978_*980del MANE Select	NP_000780.1:n.*978_*980del
NM_001178057.2:c.*978_*980del	NP_001171528.1:n.*978_*980del
NM_152830.3:c.*978_*980del	NP_690043.1:n.*978_*980del
NM_001382700.1:c.*978_*980del	NP_001369629.1:n.*978_*980del
NM_001382701.1:c.*978_*980del	NP_001369630.1:n.*978_*980del
NM_001382702.1:c.*978_*980del	NP_001369631.1:n.*978_*980del
NR_168483.1:n.3277_3279del