Canonical Allele Identifier: CA773966803

Gene: ACE

Linked Data

• dbSNP Id: rs1476116559
• gnomAD v3: 17-63488379-AAAGGAG-A
• gnomAD v4: 17-63488379-AAAGGAG-A
• MyVariant Identifiers: chr17:g.61565741_61565746del (hg19) ; chr17:g.63488380_63488385del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488381_63488386del , CM000679.2:g.63488381_63488386del	GRCh38
NC_000017.10:g.61565742_61565747del , CM000679.1:g.61565742_61565747del	GRCh37
NC_000017.9:g.58919474_58919479del	NCBI36
NG_011648.1:g.16309_16314del

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2306-267_2306-262del MANE Select	ENSP00000290866.4:n.2306-267_2306-262del
ENST00000290863.10:c.584-267_584-262del	ENSP00000290863.6:n.584-267_584-262del
ENST00000290866.9:c.2306-267_2306-262del	ENSP00000290866.4:n.2306-267_2306-262del
ENST00000413513.7:c.584-267_584-262del	ENSP00000392247.3:n.584-267_584-262del
ENST00000428043.5:c.2306-267_2306-262del	ENSP00000397593.2:n.2306-267_2306-262del
ENST00000577647.2:c.584-267_584-262del	ENSP00000464149.1:n.584-267_584-262del
ENST00000578839.5:c.*376-267_*376-262del	ENSP00000462110.2:n.*376-267_*376-262del
ENST00000579204.1:c.487-189_487-184del	ENSP00000464629.1:n.487-189_487-184del
ENST00000579314.5:c.584-189_584-184del	ENSP00000462599.1:n.584-189_584-184del
ENST00000582005.5:c.*226-267_*226-262del	ENSP00000462002.1:n.*226-267_*226-262del
ENST00000582761.1:c.74-267_74-262del	ENSP00000462909.1:n.74-267_74-262del
ENST00000584865.5:n.252-267_252-262del
NM_000789.3:c.2306-267_2306-262del	NP_000780.1:n.2306-267_2306-262del
NM_001178057.1:c.584-267_584-262del	NP_001171528.1:n.584-267_584-262del
NM_152830.2:c.584-267_584-262del	NP_690043.1:n.584-267_584-262del
XM_005257110.1:c.1757-267_1757-262del	XP_005257167.1:n.1757-267_1757-262del
XM_006721737.2:c.644-267_644-262del	XP_006721800.2:n.644-267_644-262del
XM_006721737.3:c.644-267_644-262del	XP_006721800.2:n.644-267_644-262del
NM_000789.4:c.2306-267_2306-262del MANE Select	NP_000780.1:n.2306-267_2306-262del
NM_001178057.2:c.584-267_584-262del	NP_001171528.1:n.584-267_584-262del
NM_152830.3:c.584-267_584-262del	NP_690043.1:n.584-267_584-262del
NM_001382700.1:c.1739-267_1739-262del	NP_001369629.1:n.1739-267_1739-262del
NM_001382701.1:c.1454-267_1454-262del	NP_001369630.1:n.1454-267_1454-262del
NM_001382702.1:c.236-267_236-262del	NP_001369631.1:n.236-267_236-262del
NR_168483.1:n.606-189_606-184del