Canonical Allele Identifier: CA2639246175

Gene: ACE

Linked Data

• gnomAD v4: 17-63498186-C-CTGCTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498186_63498187insTGCTCT , CM000679.2:g.63498186_63498187insTGCTCT	GRCh38
NC_000017.10:g.61575547_61575548insTGCTCT , CM000679.1:g.61575547_61575548insTGCTCT	GRCh37
NC_000017.9:g.58929279_58929280insTGCTCT	NCBI36
NG_011648.1:g.26114_26115insTGCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*820_*821insTGCTCT MANE Select	ENSP00000290866.4:n.*820_*821insTGCTCT
ENST00000290866.9:c.*820_*821insTGCTCT	ENSP00000290866.4:n.*820_*821insTGCTCT
ENST00000428043.5:c.*1163_*1164insTGCTCT	ENSP00000397593.2:n.*1163_*1164insTGCTCT
ENST00000577647.2:c.1969+1201_1969+1202insTGCTCT	ENSP00000464149.1:n.1969+1201_1969+1202insTGCTCT
NM_000789.3:c.*820_*821insTGCTCT	NP_000780.1:n.*820_*821insTGCTCT
NM_001178057.1:c.*820_*821insTGCTCT	NP_001171528.1:n.*820_*821insTGCTCT
NM_152830.2:c.*820_*821insTGCTCT	NP_690043.1:n.*820_*821insTGCTCT
XM_005257110.1:c.*820_*821insTGCTCT	XP_005257167.1:n.*820_*821insTGCTCT
XM_006721737.2:c.*820_*821insTGCTCT	XP_006721800.2:n.*820_*821insTGCTCT
NM_000789.4:c.*820_*821insTGCTCT MANE Select	NP_000780.1:n.*820_*821insTGCTCT
NM_001178057.2:c.*820_*821insTGCTCT	NP_001171528.1:n.*820_*821insTGCTCT
NM_152830.3:c.*820_*821insTGCTCT	NP_690043.1:n.*820_*821insTGCTCT
NM_001382700.1:c.*820_*821insTGCTCT	NP_001369629.1:n.*820_*821insTGCTCT
NM_001382701.1:c.*820_*821insTGCTCT	NP_001369630.1:n.*820_*821insTGCTCT
NM_001382702.1:c.*820_*821insTGCTCT	NP_001369631.1:n.*820_*821insTGCTCT
NR_168483.1:n.3119_3120insTGCTCT