Canonical Allele Identifier: CA2269950062

Gene: ACE

Linked Data

• dbSNP Id: rs2030827321

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497324_63497326dup , CM000679.2:g.63497324_63497326dup	GRCh38
NC_000017.10:g.61574685_61574687dup , CM000679.1:g.61574685_61574687dup	GRCh37
NC_000017.9:g.58928417_58928419dup	NCBI36
NG_011648.1:g.25252_25254dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3879_3881dup MANE Select	ENSP00000290866.4:p.Gly1294_Pro1295insGly
ENST00000290863.10:c.2157_2159dup	ENSP00000290863.6:p.Gly720_Pro721insGly
ENST00000290866.9:c.3879_3881dup	ENSP00000290866.4:p.Gly1294_Pro1295insGly
ENST00000413513.7:c.2034_2036dup	ENSP00000392247.3:p.Gly679_Pro680insGly
ENST00000428043.5:c.*301_*303dup	ENSP00000397593.2:n.*301_*303dup
ENST00000577647.2:c.1969+339_1969+341dup	ENSP00000464149.1:n.1969+339_1969+341dup
ENST00000578839.5:c.*1634_*1636dup	ENSP00000462110.2:n.*1634_*1636dup
ENST00000579314.5:c.*1608_*1610dup	ENSP00000462599.1:n.*1608_*1610dup
NM_000789.3:c.3879_3881dup	NP_000780.1:p.Gly1294_Pro1295insGly
NM_001178057.1:c.2034_2036dup	NP_001171528.1:p.Gly679_Pro680insGly
NM_152830.2:c.2157_2159dup	NP_690043.1:p.Gly720_Pro721insGly
XM_005257110.1:c.3330_3332dup	XP_005257167.1:p.Gly1111_Pro1112insGly
XM_006721737.2:c.2217_2219dup	XP_006721800.2:p.Gly740_Pro741insGly
XM_006721737.3:c.2217_2219dup	XP_006721800.2:p.Gly740_Pro741insGly
NM_000789.4:c.3879_3881dup MANE Select	NP_000780.1:p.Gly1294_Pro1295insGly
NM_001178057.2:c.2034_2036dup	NP_001171528.1:p.Gly679_Pro680insGly
NM_152830.3:c.2157_2159dup	NP_690043.1:p.Gly720_Pro721insGly
NM_001382700.1:c.3312_3314dup	NP_001369629.1:p.Gly1105_Pro1106insGly
NM_001382701.1:c.3027_3029dup	NP_001369630.1:p.Gly1010_Pro1011insGly
NM_001382702.1:c.1494_1496dup	NP_001369631.1:p.Gly499_Pro500insGly
NR_168483.1:n.2257_2259dup