Canonical Allele Identifier: CA985398606

Gene: ACE

Linked Data

• dbSNP Id: rs2030662710
• gnomAD v3: 17-63495348-GCTACAGGTAGCCCAGGCCAC-G
• gnomAD v4: 17-63495348-GCTACAGGTAGCCCAGGCCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63495350_63495369del , CM000679.2:g.63495350_63495369del	GRCh38
NC_000017.10:g.61572711_61572730del , CM000679.1:g.61572711_61572730del	GRCh37
NC_000017.9:g.58926443_58926462del	NCBI36
NG_011648.1:g.23278_23297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3380+880_3380+899del MANE Select	ENSP00000290866.4:n.3380+880_3380+899del
ENST00000290863.10:c.1658+880_1658+899del	ENSP00000290863.6:n.1658+880_1658+899del
ENST00000290866.9:c.3380+880_3380+899del	ENSP00000290866.4:n.3380+880_3380+899del
ENST00000413513.7:c.1658+880_1658+899del	ENSP00000392247.3:n.1658+880_1658+899del
ENST00000428043.5:c.3380+880_3380+899del	ENSP00000397593.2:n.3380+880_3380+899del
ENST00000577418.5:n.390+880_390+899del
ENST00000577647.2:c.1658+880_1658+899del	ENSP00000464149.1:n.1658+880_1658+899del
ENST00000578839.5:c.*1258+880_*1258+899del	ENSP00000462110.2:n.*1258+880_*1258+899del
ENST00000579314.5:c.*1109+880_*1109+899del	ENSP00000462599.1:n.*1109+880_*1109+899del
ENST00000579409.1:c.67+880_67+899del
NM_000789.3:c.3380+880_3380+899del	NP_000780.1:n.3380+880_3380+899del
NM_001178057.1:c.1658+880_1658+899del	NP_001171528.1:n.1658+880_1658+899del
NM_152830.2:c.1658+880_1658+899del	NP_690043.1:n.1658+880_1658+899del
XM_005257110.1:c.2831+880_2831+899del	XP_005257167.1:n.2831+880_2831+899del
XM_006721737.2:c.1718+880_1718+899del	XP_006721800.2:n.1718+880_1718+899del
XM_006721737.3:c.1718+880_1718+899del	XP_006721800.2:n.1718+880_1718+899del
NM_000789.4:c.3380+880_3380+899del MANE Select	NP_000780.1:n.3380+880_3380+899del
NM_001178057.2:c.1658+880_1658+899del	NP_001171528.1:n.1658+880_1658+899del
NM_152830.3:c.1658+880_1658+899del	NP_690043.1:n.1658+880_1658+899del
NM_001382700.1:c.2813+880_2813+899del	NP_001369629.1:n.2813+880_2813+899del
NM_001382701.1:c.2528+880_2528+899del	NP_001369630.1:n.2528+880_2528+899del
NM_001382702.1:c.1118+880_1118+899del	NP_001369631.1:n.1118+880_1118+899del
NR_168483.1:n.1758+880_1758+899del