Canonical Allele Identifier: CA2639263253

Gene: ACE

Linked Data

• gnomAD v4: 17-63486885-TGGCTCCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486886_63486893del , CM000679.2:g.63486886_63486893del	GRCh38
NC_000017.10:g.61564247_61564254del , CM000679.1:g.61564247_61564254del	GRCh37
NC_000017.9:g.58917979_58917986del	NCBI36
NG_011648.1:g.14814_14821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2218-100_2218-93del MANE Select	ENSP00000290866.4:n.2218-100_2218-93del
ENST00000290863.10:c.496-100_496-93del	ENSP00000290863.6:n.496-100_496-93del
ENST00000290866.9:c.2218-100_2218-93del	ENSP00000290866.4:n.2218-100_2218-93del
ENST00000413513.7:c.496-100_496-93del	ENSP00000392247.3:n.496-100_496-93del
ENST00000428043.5:c.2218-100_2218-93del	ENSP00000397593.2:n.2218-100_2218-93del
ENST00000577647.2:c.496-100_496-93del	ENSP00000464149.1:n.496-100_496-93del
ENST00000578839.5:c.*288-100_*288-93del	ENSP00000462110.2:n.*288-100_*288-93del
ENST00000579204.1:c.399-100_399-93del	ENSP00000464629.1:n.399-100_399-93del
ENST00000579314.5:c.496-100_496-93del	ENSP00000462599.1:n.496-100_496-93del
ENST00000579726.5:c.780-100_780-93del
ENST00000582005.5:c.*138-100_*138-93del	ENSP00000462002.1:n.*138-100_*138-93del
ENST00000584865.5:n.64_71del
NM_000789.3:c.2218-100_2218-93del	NP_000780.1:n.2218-100_2218-93del
NM_001178057.1:c.496-100_496-93del	NP_001171528.1:n.496-100_496-93del
NM_152830.2:c.496-100_496-93del	NP_690043.1:n.496-100_496-93del
XM_005257110.1:c.1669-100_1669-93del	XP_005257167.1:n.1669-100_1669-93del
XM_006721737.2:c.556-100_556-93del	XP_006721800.2:n.556-100_556-93del
XM_006721737.3:c.556-100_556-93del	XP_006721800.2:n.556-100_556-93del
NM_000789.4:c.2218-100_2218-93del MANE Select	NP_000780.1:n.2218-100_2218-93del
NM_001178057.2:c.496-100_496-93del	NP_001171528.1:n.496-100_496-93del
NM_152830.3:c.496-100_496-93del	NP_690043.1:n.496-100_496-93del
NM_001382700.1:c.1651-100_1651-93del	NP_001369629.1:n.1651-100_1651-93del
NM_001382701.1:c.1366-100_1366-93del	NP_001369630.1:n.1366-100_1366-93del
NM_001382702.1:c.148-100_148-93del	NP_001369631.1:n.148-100_148-93del
NR_168483.1:n.518-100_518-93del