Canonical Allele Identifier: CA627148106

Gene: ACE

Linked Data

• dbSNP Id: rs1475319203
• gnomAD v2: 17-61565740-AAAG-A
• gnomAD v3: 17-63488379-AAAG-A
• gnomAD v4: 17-63488379-AAAG-A
• MyVariant Identifiers: chr17:g.61565741_61565743del (hg19) ; chr17:g.63488380_63488382del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488380_63488382del , CM000679.2:g.63488380_63488382del	GRCh38
NC_000017.10:g.61565741_61565743del , CM000679.1:g.61565741_61565743del	GRCh37
NC_000017.9:g.58919473_58919475del	NCBI36
NG_011648.1:g.16308_16310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2306-268_2306-266del MANE Select	ENSP00000290866.4:n.2306-268_2306-266del
ENST00000290863.10:c.584-268_584-266del	ENSP00000290863.6:n.584-268_584-266del
ENST00000290866.9:c.2306-268_2306-266del	ENSP00000290866.4:n.2306-268_2306-266del
ENST00000413513.7:c.584-268_584-266del	ENSP00000392247.3:n.584-268_584-266del
ENST00000428043.5:c.2306-268_2306-266del	ENSP00000397593.2:n.2306-268_2306-266del
ENST00000577647.2:c.584-268_584-266del	ENSP00000464149.1:n.584-268_584-266del
ENST00000578839.5:c.*376-268_*376-266del	ENSP00000462110.2:n.*376-268_*376-266del
ENST00000579204.1:c.487-190_487-188del	ENSP00000464629.1:n.487-190_487-188del
ENST00000579314.5:c.584-190_584-188del	ENSP00000462599.1:n.584-190_584-188del
ENST00000582005.5:c.*226-268_*226-266del	ENSP00000462002.1:n.*226-268_*226-266del
ENST00000582761.1:c.74-268_74-266del	ENSP00000462909.1:n.74-268_74-266del
ENST00000584865.5:n.252-268_252-266del
NM_000789.3:c.2306-268_2306-266del	NP_000780.1:n.2306-268_2306-266del
NM_001178057.1:c.584-268_584-266del	NP_001171528.1:n.584-268_584-266del
NM_152830.2:c.584-268_584-266del	NP_690043.1:n.584-268_584-266del
XM_005257110.1:c.1757-268_1757-266del	XP_005257167.1:n.1757-268_1757-266del
XM_006721737.2:c.644-268_644-266del	XP_006721800.2:n.644-268_644-266del
XM_006721737.3:c.644-268_644-266del	XP_006721800.2:n.644-268_644-266del
NM_000789.4:c.2306-268_2306-266del MANE Select	NP_000780.1:n.2306-268_2306-266del
NM_001178057.2:c.584-268_584-266del	NP_001171528.1:n.584-268_584-266del
NM_152830.3:c.584-268_584-266del	NP_690043.1:n.584-268_584-266del
NM_001382700.1:c.1739-268_1739-266del	NP_001369629.1:n.1739-268_1739-266del
NM_001382701.1:c.1454-268_1454-266del	NP_001369630.1:n.1454-268_1454-266del
NM_001382702.1:c.236-268_236-266del	NP_001369631.1:n.236-268_236-266del
NR_168483.1:n.606-190_606-188del