Canonical Allele Identifier: CA627147819

Gene: ACE

Linked Data

• dbSNP Id: rs1440772953
• gnomAD v2: 17-61554520-TGCC-T
• gnomAD v4: 17-63477159-TGCC-T
• MyVariant Identifiers: chr17:g.61554521_61554523del (hg19) ; chr17:g.63477160_63477162del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477165_63477167del , CM000679.2:g.63477165_63477167del	GRCh38
NC_000017.10:g.61554526_61554528del , CM000679.1:g.61554526_61554528del	GRCh37
NC_000017.9:g.58908258_58908260del	NCBI36
NG_011648.1:g.5093_5095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.71_73del MANE Select	ENSP00000290866.4:p.Pro24del
ENST00000290866.9:c.71_73del	ENSP00000290866.4:p.Pro24del
ENST00000428043.5:c.71_73del	ENSP00000397593.2:p.Pro24del
ENST00000579462.1:n.96_98del
ENST00000582678.5:c.71_73del	ENSP00000462995.1:p.Pro24del
ENST00000583336.5:n.105_107del
ENST00000584529.5:n.105_107del
NM_000789.3:c.71_73del	NP_000780.1:p.Pro24del
XM_005257110.1:c.-385_-383del	XP_005257167.1:n.-385_-383del
NM_000789.4:c.71_73del MANE Select	NP_000780.1:p.Pro24del
NM_001382700.1:c.-165_-163del	NP_001369629.1:n.-165_-163del
NM_001382701.1:c.-544_-542del	NP_001369630.1:n.-544_-542del