Canonical Allele Identifier: CA2639246222

Gene: ACE

Linked Data

• gnomAD v4: 17-63498194-CAGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498196_63498199del , CM000679.2:g.63498196_63498199del	GRCh38
NC_000017.10:g.61575557_61575560del , CM000679.1:g.61575557_61575560del	GRCh37
NC_000017.9:g.58929289_58929292del	NCBI36
NG_011648.1:g.26124_26127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*830_*833del MANE Select	ENSP00000290866.4:n.*830_*833del
ENST00000290866.9:c.*830_*833del	ENSP00000290866.4:n.*830_*833del
ENST00000428043.5:c.*1173_*1176del	ENSP00000397593.2:n.*1173_*1176del
ENST00000577647.2:c.1969+1211_1969+1214del	ENSP00000464149.1:n.1969+1211_1969+1214del
NM_000789.3:c.*830_*833del	NP_000780.1:n.*830_*833del
NM_001178057.1:c.*830_*833del	NP_001171528.1:n.*830_*833del
NM_152830.2:c.*830_*833del	NP_690043.1:n.*830_*833del
XM_005257110.1:c.*830_*833del	XP_005257167.1:n.*830_*833del
XM_006721737.2:c.*830_*833del	XP_006721800.2:n.*830_*833del
NM_000789.4:c.*830_*833del MANE Select	NP_000780.1:n.*830_*833del
NM_001178057.2:c.*830_*833del	NP_001171528.1:n.*830_*833del
NM_152830.3:c.*830_*833del	NP_690043.1:n.*830_*833del
NM_001382700.1:c.*830_*833del	NP_001369629.1:n.*830_*833del
NM_001382701.1:c.*830_*833del	NP_001369630.1:n.*830_*833del
NM_001382702.1:c.*830_*833del	NP_001369631.1:n.*830_*833del
NR_168483.1:n.3129_3132del