Canonical Allele Identifier: CA627148294

Gene: ACE

Linked Data

• dbSNP Id: rs1476011360
• gnomAD v2: 17-61566052-GT-G
• gnomAD v4: 17-63488691-GT-G
• MyVariant Identifiers: chr17:g.61566053del (hg19) ; chr17:g.63488692del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488693del , CM000679.2:g.63488693del	GRCh38
NC_000017.10:g.61566054del , CM000679.1:g.61566054del	GRCh37
NC_000017.9:g.58919786del	NCBI36
NG_011648.1:g.16621del

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2351del MANE Select	ENSP00000290866.4:p.Leu784TyrfsTer?
ENST00000290863.10:c.629del	ENSP00000290863.6:p.Leu210TyrfsTer?
ENST00000290866.9:c.2351del	ENSP00000290866.4:p.Leu784TyrfsTer?
ENST00000413513.7:c.629del	ENSP00000392247.3:p.Leu210TyrfsTer?
ENST00000428043.5:c.2351del	ENSP00000397593.2:p.Leu784TyrfsTer?
ENST00000577647.2:c.629del	ENSP00000464149.1:p.Leu210TyrfsTer?
ENST00000578839.5:c.*421del	ENSP00000462110.2:n.*421del
ENST00000579204.1:c.610del	ENSP00000464629.1:n.610del
ENST00000579314.5:c.*80del	ENSP00000462599.1:n.*80del
ENST00000582005.5:c.*271del	ENSP00000462002.1:n.*271del
ENST00000582761.1:c.119del	ENSP00000462909.1:p.Leu40TyrfsTer?
ENST00000584865.5:n.297del
NM_000789.3:c.2351del	NP_000780.1:p.Leu784TyrfsTer?
NM_001178057.1:c.629del	NP_001171528.1:p.Leu210TyrfsTer?
NM_152830.2:c.629del	NP_690043.1:p.Leu210TyrfsTer?
XM_005257110.1:c.1802del	XP_005257167.1:p.Leu601TyrfsTer?
XM_006721737.2:c.689del	XP_006721800.2:p.Leu230TyrfsTer?
XM_006721737.3:c.689del	XP_006721800.2:p.Leu230TyrfsTer?
NM_000789.4:c.2351del MANE Select	NP_000780.1:p.Leu784TyrfsTer?
NM_001178057.2:c.629del	NP_001171528.1:p.Leu210TyrfsTer?
NM_152830.3:c.629del	NP_690043.1:p.Leu210TyrfsTer?
NM_001382700.1:c.1784del	NP_001369629.1:p.Leu595TyrfsTer?
NM_001382701.1:c.1499del	NP_001369630.1:p.Leu500TyrfsTer?
NM_001382702.1:c.281del	NP_001369631.1:p.Leu94TyrfsTer?
NR_168483.1:n.729del