Canonical Allele Identifier: CA627148147

Gene: ACE

Linked Data

• dbSNP Id: rs1599148522
• gnomAD v2: 17-61565908-TGG-T
• gnomAD v3: 17-63488547-TGG-T
• gnomAD v4: 17-63488547-TGG-T
• MyVariant Identifiers: chr17:g.61565909_61565910del (hg19) ; chr17:g.63488548_63488549del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488548_63488549del , CM000679.2:g.63488548_63488549del	GRCh38
NC_000017.10:g.61565909_61565910del , CM000679.1:g.61565909_61565910del	GRCh37
NC_000017.9:g.58919641_58919642del	NCBI36
NG_011648.1:g.16476_16477del

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2306-100_2306-99del MANE Select	ENSP00000290866.4:n.2306-100_2306-99del
ENST00000290863.10:c.584-100_584-99del	ENSP00000290863.6:n.584-100_584-99del
ENST00000290866.9:c.2306-100_2306-99del	ENSP00000290866.4:n.2306-100_2306-99del
ENST00000413513.7:c.584-100_584-99del	ENSP00000392247.3:n.584-100_584-99del
ENST00000428043.5:c.2306-100_2306-99del	ENSP00000397593.2:n.2306-100_2306-99del
ENST00000577647.2:c.584-100_584-99del	ENSP00000464149.1:n.584-100_584-99del
ENST00000578839.5:c.*376-100_*376-99del	ENSP00000462110.2:n.*376-100_*376-99del
ENST00000579204.1:c.487-22_487-21del	ENSP00000464629.1:n.487-22_487-21del
ENST00000579314.5:c.584-22_584-21del	ENSP00000462599.1:n.584-22_584-21del
ENST00000582005.5:c.*226-100_*226-99del	ENSP00000462002.1:n.*226-100_*226-99del
ENST00000582761.1:c.74-100_74-99del	ENSP00000462909.1:n.74-100_74-99del
ENST00000584865.5:n.252-100_252-99del
NM_000789.3:c.2306-100_2306-99del	NP_000780.1:n.2306-100_2306-99del
NM_001178057.1:c.584-100_584-99del	NP_001171528.1:n.584-100_584-99del
NM_152830.2:c.584-100_584-99del	NP_690043.1:n.584-100_584-99del
XM_005257110.1:c.1757-100_1757-99del	XP_005257167.1:n.1757-100_1757-99del
XM_006721737.2:c.644-100_644-99del	XP_006721800.2:n.644-100_644-99del
XM_006721737.3:c.644-100_644-99del	XP_006721800.2:n.644-100_644-99del
NM_000789.4:c.2306-100_2306-99del MANE Select	NP_000780.1:n.2306-100_2306-99del
NM_001178057.2:c.584-100_584-99del	NP_001171528.1:n.584-100_584-99del
NM_152830.3:c.584-100_584-99del	NP_690043.1:n.584-100_584-99del
NM_001382700.1:c.1739-100_1739-99del	NP_001369629.1:n.1739-100_1739-99del
NM_001382701.1:c.1454-100_1454-99del	NP_001369630.1:n.1454-100_1454-99del
NM_001382702.1:c.236-100_236-99del	NP_001369631.1:n.236-100_236-99del
NR_168483.1:n.606-22_606-21del