Canonical Allele Identifier: CA2639263163

Gene: ACE

Linked Data

• gnomAD v4: 17-63486591-TGAAGTACGGCACCCAGGCCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486597_63486617del , CM000679.2:g.63486597_63486617del	GRCh38
NC_000017.10:g.61563958_61563978del , CM000679.1:g.61563958_61563978del	GRCh37
NC_000017.9:g.58917690_58917710del	NCBI36
NG_011648.1:g.14525_14545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2099_2119del MANE Select	ENSP00000290866.4:p.Tyr700_Lys706del
ENST00000290863.10:c.377_397del	ENSP00000290863.6:p.Tyr126_Lys132del
ENST00000290866.9:c.2099_2119del	ENSP00000290866.4:p.Tyr700_Lys706del
ENST00000413513.7:c.377_397del	ENSP00000392247.3:p.Tyr126_Lys132del
ENST00000428043.5:c.2099_2119del	ENSP00000397593.2:p.Tyr700_Lys706del
ENST00000577647.2:c.377_397del	ENSP00000464149.1:p.Tyr126_Lys132del
ENST00000578839.5:c.*169_*189del	ENSP00000462110.2:n.*169_*189del
ENST00000579204.1:c.280_300del	ENSP00000464629.1:n.280_300del
ENST00000579314.5:c.377_397del	ENSP00000462599.1:p.Tyr126_Lys132del
ENST00000579726.5:c.661_681del
ENST00000582005.5:c.*19_*39del	ENSP00000462002.1:n.*19_*39del
NM_000789.3:c.2099_2119del	NP_000780.1:p.Tyr700_Lys706del
NM_001178057.1:c.377_397del	NP_001171528.1:p.Tyr126_Lys132del
NM_152830.2:c.377_397del	NP_690043.1:p.Tyr126_Lys132del
XM_005257110.1:c.1550_1570del	XP_005257167.1:p.Tyr517_Lys523del
XM_006721737.2:c.437_457del	XP_006721800.2:p.Tyr146_Lys152del
XM_006721737.3:c.437_457del	XP_006721800.2:p.Tyr146_Lys152del
NM_000789.4:c.2099_2119del MANE Select	NP_000780.1:p.Tyr700_Lys706del
NM_001178057.2:c.377_397del	NP_001171528.1:p.Tyr126_Lys132del
NM_152830.3:c.377_397del	NP_690043.1:p.Tyr126_Lys132del
NM_001382700.1:c.1532_1552del	NP_001369629.1:p.Tyr511_Lys517del
NM_001382701.1:c.1247_1267del	NP_001369630.1:p.Tyr416_Lys422del
NM_001382702.1:c.29_49del	NP_001369631.1:p.Tyr10_Lys16del
NR_168483.1:n.399_419del