Canonical Allele Identifier: CA773975185

Gene: ACE

Linked Data

• dbSNP Id: rs1262595796
• gnomAD v3: 17-63498293-CTT-C
• gnomAD v4: 17-63498293-CTT-C
• MyVariant Identifiers: chr17:g.61575655_61575656del (hg19) ; chr17:g.63498294_63498295del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498296_63498297del , CM000679.2:g.63498296_63498297del	GRCh38
NC_000017.10:g.61575657_61575658del , CM000679.1:g.61575657_61575658del	GRCh37
NC_000017.9:g.58929389_58929390del	NCBI36
NG_011648.1:g.26224_26225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*930_*931del MANE Select	ENSP00000290866.4:n.*930_*931del
ENST00000290866.9:c.*930_*931del	ENSP00000290866.4:n.*930_*931del
ENST00000428043.5:c.*1273_*1274del	ENSP00000397593.2:n.*1273_*1274del
ENST00000577647.2:c.1969+1311_1969+1312del	ENSP00000464149.1:n.1969+1311_1969+1312del
NM_000789.3:c.*930_*931del	NP_000780.1:n.*930_*931del
NM_001178057.1:c.*930_*931del	NP_001171528.1:n.*930_*931del
NM_152830.2:c.*930_*931del	NP_690043.1:n.*930_*931del
XM_005257110.1:c.*930_*931del	XP_005257167.1:n.*930_*931del
XM_006721737.2:c.*930_*931del	XP_006721800.2:n.*930_*931del
NM_000789.4:c.*930_*931del MANE Select	NP_000780.1:n.*930_*931del
NM_001178057.2:c.*930_*931del	NP_001171528.1:n.*930_*931del
NM_152830.3:c.*930_*931del	NP_690043.1:n.*930_*931del
NM_001382700.1:c.*930_*931del	NP_001369629.1:n.*930_*931del
NM_001382701.1:c.*930_*931del	NP_001369630.1:n.*930_*931del
NM_001382702.1:c.*930_*931del	NP_001369631.1:n.*930_*931del
NR_168483.1:n.3229_3230del