Canonical Allele Identifier: CA773965938

Gene: ACE

Linked Data

• dbSNP Id: rs1173372070
• gnomAD v3: 17-63486972-CCTT-C
• gnomAD v4: 17-63486972-CCTT-C
• MyVariant Identifiers: chr17:g.61564334_61564336del (hg19) ; chr17:g.63486973_63486975del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486974_63486976del , CM000679.2:g.63486974_63486976del	GRCh38
NC_000017.10:g.61564335_61564337del , CM000679.1:g.61564335_61564337del	GRCh37
NC_000017.9:g.58918067_58918069del	NCBI36
NG_011648.1:g.14902_14904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2218-12_2218-10del MANE Select	ENSP00000290866.4:n.2218-12_2218-10del
ENST00000290863.10:c.496-12_496-10del	ENSP00000290863.6:n.496-12_496-10del
ENST00000290866.9:c.2218-12_2218-10del	ENSP00000290866.4:n.2218-12_2218-10del
ENST00000413513.7:c.496-12_496-10del	ENSP00000392247.3:n.496-12_496-10del
ENST00000428043.5:c.2218-12_2218-10del	ENSP00000397593.2:n.2218-12_2218-10del
ENST00000577647.2:c.496-12_496-10del	ENSP00000464149.1:n.496-12_496-10del
ENST00000578839.5:c.*288-12_*288-10del	ENSP00000462110.2:n.*288-12_*288-10del
ENST00000579204.1:c.399-12_399-10del	ENSP00000464629.1:n.399-12_399-10del
ENST00000579314.5:c.496-12_496-10del	ENSP00000462599.1:n.496-12_496-10del
ENST00000579726.5:c.780-12_780-10del
ENST00000582005.5:c.*138-12_*138-10del	ENSP00000462002.1:n.*138-12_*138-10del
ENST00000584865.5:n.152_154del
NM_000789.3:c.2218-12_2218-10del	NP_000780.1:n.2218-12_2218-10del
NM_001178057.1:c.496-12_496-10del	NP_001171528.1:n.496-12_496-10del
NM_152830.2:c.496-12_496-10del	NP_690043.1:n.496-12_496-10del
XM_005257110.1:c.1669-12_1669-10del	XP_005257167.1:n.1669-12_1669-10del
XM_006721737.2:c.556-12_556-10del	XP_006721800.2:n.556-12_556-10del
XM_006721737.3:c.556-12_556-10del	XP_006721800.2:n.556-12_556-10del
NM_000789.4:c.2218-12_2218-10del MANE Select	NP_000780.1:n.2218-12_2218-10del
NM_001178057.2:c.496-12_496-10del	NP_001171528.1:n.496-12_496-10del
NM_152830.3:c.496-12_496-10del	NP_690043.1:n.496-12_496-10del
NM_001382700.1:c.1651-12_1651-10del	NP_001369629.1:n.1651-12_1651-10del
NM_001382701.1:c.1366-12_1366-10del	NP_001369630.1:n.1366-12_1366-10del
NM_001382702.1:c.148-12_148-10del	NP_001369631.1:n.148-12_148-10del
NR_168483.1:n.518-12_518-10del