Canonical Allele Identifier: CA2639263236

Gene: ACE

Linked Data

• gnomAD v4: 17-63486859-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486863_63486864del , CM000679.2:g.63486863_63486864del	GRCh38
NC_000017.10:g.61564224_61564225del , CM000679.1:g.61564224_61564225del	GRCh37
NC_000017.9:g.58917956_58917957del	NCBI36
NG_011648.1:g.14791_14792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2218-123_2218-122del MANE Select	ENSP00000290866.4:n.2218-123_2218-122del
ENST00000290863.10:c.496-123_496-122del	ENSP00000290863.6:n.496-123_496-122del
ENST00000290866.9:c.2218-123_2218-122del	ENSP00000290866.4:n.2218-123_2218-122del
ENST00000413513.7:c.496-123_496-122del	ENSP00000392247.3:n.496-123_496-122del
ENST00000428043.5:c.2218-123_2218-122del	ENSP00000397593.2:n.2218-123_2218-122del
ENST00000577647.2:c.496-123_496-122del	ENSP00000464149.1:n.496-123_496-122del
ENST00000578839.5:c.*288-123_*288-122del	ENSP00000462110.2:n.*288-123_*288-122del
ENST00000579204.1:c.399-123_399-122del	ENSP00000464629.1:n.399-123_399-122del
ENST00000579314.5:c.496-123_496-122del	ENSP00000462599.1:n.496-123_496-122del
ENST00000579726.5:c.780-123_780-122del
ENST00000582005.5:c.*138-123_*138-122del	ENSP00000462002.1:n.*138-123_*138-122del
ENST00000584865.5:n.41_42del
NM_000789.3:c.2218-123_2218-122del	NP_000780.1:n.2218-123_2218-122del
NM_001178057.1:c.496-123_496-122del	NP_001171528.1:n.496-123_496-122del
NM_152830.2:c.496-123_496-122del	NP_690043.1:n.496-123_496-122del
XM_005257110.1:c.1669-123_1669-122del	XP_005257167.1:n.1669-123_1669-122del
XM_006721737.2:c.556-123_556-122del	XP_006721800.2:n.556-123_556-122del
XM_006721737.3:c.556-123_556-122del	XP_006721800.2:n.556-123_556-122del
NM_000789.4:c.2218-123_2218-122del MANE Select	NP_000780.1:n.2218-123_2218-122del
NM_001178057.2:c.496-123_496-122del	NP_001171528.1:n.496-123_496-122del
NM_152830.3:c.496-123_496-122del	NP_690043.1:n.496-123_496-122del
NM_001382700.1:c.1651-123_1651-122del	NP_001369629.1:n.1651-123_1651-122del
NM_001382701.1:c.1366-123_1366-122del	NP_001369630.1:n.1366-123_1366-122del
NM_001382702.1:c.148-123_148-122del	NP_001369631.1:n.148-123_148-122del
NR_168483.1:n.518-123_518-122del