Canonical Allele Identifier: CA2269946023

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488842_63488844delinsCAA , CM000679.2:g.63488842_63488844delinsCAA	GRCh38
NC_000017.10:g.61566203_61566205delinsCAA , CM000679.1:g.61566203_61566205delinsCAA	GRCh37
NC_000017.9:g.58919935_58919937delinsCAA	NCBI36
NG_011648.1:g.16770_16772delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2449+51_2449+53delinsCAA MANE Select	ENSP00000290866.4:n.2449+51_2449+53delinsCAA
ENST00000290863.10:c.727+51_727+53delinsCAA	ENSP00000290863.6:n.727+51_727+53delinsCAA
ENST00000290866.9:c.2449+51_2449+53delinsCAA	ENSP00000290866.4:n.2449+51_2449+53delinsCAA
ENST00000413513.7:c.727+51_727+53delinsCAA	ENSP00000392247.3:n.727+51_727+53delinsCAA
ENST00000428043.5:c.2449+51_2449+53delinsCAA	ENSP00000397593.2:n.2449+51_2449+53delinsCAA
ENST00000577647.2:c.727+51_727+53delinsCAA	ENSP00000464149.1:n.727+51_727+53delinsCAA
ENST00000578839.5:c.*519+51_*519+53delinsCAA	ENSP00000462110.2:n.*519+51_*519+53delinsCAA
ENST00000579204.1:c.708+51_708+53delinsCAA	ENSP00000464629.1:n.708+51_708+53delinsCAA
ENST00000579314.5:c.*178+51_*178+53delinsCAA	ENSP00000462599.1:n.*178+51_*178+53delinsCAA
ENST00000582005.5:c.*369+51_*369+53delinsCAA	ENSP00000462002.1:n.*369+51_*369+53delinsCAA
ENST00000582761.1:c.217+51_217+53delinsCAA	ENSP00000462909.1:n.217+51_217+53delinsCAA
ENST00000584865.5:n.395+51_395+53delinsCAA
NM_000789.3:c.2449+51_2449+53delinsCAA	NP_000780.1:n.2449+51_2449+53delinsCAA
NM_001178057.1:c.727+51_727+53delinsCAA	NP_001171528.1:n.727+51_727+53delinsCAA
NM_152830.2:c.727+51_727+53delinsCAA	NP_690043.1:n.727+51_727+53delinsCAA
XM_005257110.1:c.1900+51_1900+53delinsCAA	XP_005257167.1:n.1900+51_1900+53delinsCAA
XM_006721737.2:c.787+51_787+53delinsCAA	XP_006721800.2:n.787+51_787+53delinsCAA
XM_006721737.3:c.787+51_787+53delinsCAA	XP_006721800.2:n.787+51_787+53delinsCAA
NM_000789.4:c.2449+51_2449+53delinsCAA MANE Select	NP_000780.1:n.2449+51_2449+53delinsCAA
NM_001178057.2:c.727+51_727+53delinsCAA	NP_001171528.1:n.727+51_727+53delinsCAA
NM_152830.3:c.727+51_727+53delinsCAA	NP_690043.1:n.727+51_727+53delinsCAA
NM_001382700.1:c.1882+51_1882+53delinsCAA	NP_001369629.1:n.1882+51_1882+53delinsCAA
NM_001382701.1:c.1597+51_1597+53delinsCAA	NP_001369630.1:n.1597+51_1597+53delinsCAA
NM_001382702.1:c.379+51_379+53delinsCAA	NP_001369631.1:n.379+51_379+53delinsCAA
NR_168483.1:n.827+51_827+53delinsCAA