Canonical Allele Identifier: CA2639263728

Gene: ACE

Linked Data

• gnomAD v4: 17-63488989-CCCTGGAGCAAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488998_63489009del , CM000679.2:g.63488998_63489009del	GRCh38
NC_000017.10:g.61566359_61566370del , CM000679.1:g.61566359_61566370del	GRCh37
NC_000017.9:g.58920091_58920102del	NCBI36
NG_011648.1:g.16926_16937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2507_2518del MANE Select	ENSP00000290866.4:p.Gln836_Glu839del
ENST00000290863.10:c.785_796del	ENSP00000290863.6:p.Gln262_Glu265del
ENST00000290866.9:c.2507_2518del	ENSP00000290866.4:p.Gln836_Glu839del
ENST00000413513.7:c.785_796del	ENSP00000392247.3:p.Gln262_Glu265del
ENST00000428043.5:c.2507_2518del	ENSP00000397593.2:p.Gln836_Glu839del
ENST00000577647.2:c.785_796del	ENSP00000464149.1:p.Gln262_Glu265del
ENST00000578839.5:c.*519+207_*519+218del	ENSP00000462110.2:n.*519+207_*519+218del
ENST00000579204.1:c.766_777del	ENSP00000464629.1:n.766_777del
ENST00000579314.5:c.*236_*247del	ENSP00000462599.1:n.*236_*247del
ENST00000582005.5:c.*427_*438del	ENSP00000462002.1:n.*427_*438del
ENST00000582761.1:c.275_286del	ENSP00000462909.1:p.Gln92_Glu95del
ENST00000584865.5:n.453_464del
NM_000789.3:c.2507_2518del	NP_000780.1:p.Gln836_Glu839del
NM_001178057.1:c.785_796del	NP_001171528.1:p.Gln262_Glu265del
NM_152830.2:c.785_796del	NP_690043.1:p.Gln262_Glu265del
XM_005257110.1:c.1958_1969del	XP_005257167.1:p.Gln653_Glu656del
XM_006721737.2:c.845_856del	XP_006721800.2:p.Gln282_Glu285del
XM_006721737.3:c.845_856del	XP_006721800.2:p.Gln282_Glu285del
NM_000789.4:c.2507_2518del MANE Select	NP_000780.1:p.Gln836_Glu839del
NM_001178057.2:c.785_796del	NP_001171528.1:p.Gln262_Glu265del
NM_152830.3:c.785_796del	NP_690043.1:p.Gln262_Glu265del
NM_001382700.1:c.1940_1951del	NP_001369629.1:p.Gln647_Glu650del
NM_001382701.1:c.1655_1666del	NP_001369630.1:p.Gln552_Glu555del
NM_001382702.1:c.379+207_379+218del	NP_001369631.1:n.379+207_379+218del
NR_168483.1:n.885_896del