Canonical Allele Identifier: CA985399656

Gene: ACE

Linked Data

• dbSNP Id: rs2030803568
• gnomAD v3: 17-63497101-T-TGCCCTGCCCA
• gnomAD v4: 17-63497101-T-TGCCCTGCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497102_63497111dup , CM000679.2:g.63497102_63497111dup	GRCh38
NC_000017.10:g.61574463_61574472dup , CM000679.1:g.61574463_61574472dup	GRCh37
NC_000017.9:g.58928195_58928204dup	NCBI36
NG_011648.1:g.25030_25039dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3692-35_3692-26dup MANE Select	ENSP00000290866.4:n.3692-35_3692-26dup
ENST00000290863.10:c.1970-35_1970-26dup	ENSP00000290863.6:n.1970-35_1970-26dup
ENST00000290866.9:c.3692-35_3692-26dup	ENSP00000290866.4:n.3692-35_3692-26dup
ENST00000413513.7:c.1847-35_1847-26dup	ENSP00000392247.3:n.1847-35_1847-26dup
ENST00000428043.5:c.*79_*88dup	ENSP00000397593.2:n.*79_*88dup
ENST00000577418.5:n.702-35_702-26dup
ENST00000577647.2:c.1969+117_1969+126dup	ENSP00000464149.1:n.1969+117_1969+126dup
ENST00000578839.5:c.*1447-35_*1447-26dup	ENSP00000462110.2:n.*1447-35_*1447-26dup
ENST00000579314.5:c.*1421-35_*1421-26dup	ENSP00000462599.1:n.*1421-35_*1421-26dup
ENST00000579409.1:c.495_504dup
NM_000789.3:c.3692-35_3692-26dup	NP_000780.1:n.3692-35_3692-26dup
NM_001178057.1:c.1847-35_1847-26dup	NP_001171528.1:n.1847-35_1847-26dup
NM_152830.2:c.1970-35_1970-26dup	NP_690043.1:n.1970-35_1970-26dup
XM_005257110.1:c.3143-35_3143-26dup	XP_005257167.1:n.3143-35_3143-26dup
XM_006721737.2:c.2030-35_2030-26dup	XP_006721800.2:n.2030-35_2030-26dup
XM_006721737.3:c.2030-35_2030-26dup	XP_006721800.2:n.2030-35_2030-26dup
NM_000789.4:c.3692-35_3692-26dup MANE Select	NP_000780.1:n.3692-35_3692-26dup
NM_001178057.2:c.1847-35_1847-26dup	NP_001171528.1:n.1847-35_1847-26dup
NM_152830.3:c.1970-35_1970-26dup	NP_690043.1:n.1970-35_1970-26dup
NM_001382700.1:c.3125-35_3125-26dup	NP_001369629.1:n.3125-35_3125-26dup
NM_001382701.1:c.2840-35_2840-26dup	NP_001369630.1:n.2840-35_2840-26dup
NM_001382702.1:c.1307-35_1307-26dup	NP_001369631.1:n.1307-35_1307-26dup
NR_168483.1:n.2070-35_2070-26dup