Canonical Allele Identifier: CA2639236783

Gene: ACE

Linked Data

• gnomAD v4: 17-63477138-C-CGCTGCCGCTGCTGTTGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477147_63477164dup , CM000679.2:g.63477147_63477164dup	GRCh38
NC_000017.10:g.61554508_61554525dup , CM000679.1:g.61554508_61554525dup	GRCh37
NC_000017.9:g.58908240_58908257dup	NCBI36
NG_011648.1:g.5075_5092dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.53_70dup MANE Select	ENSP00000290866.4:p.Pro23_Pro24insLeuLeuLeuLeuLeuPro
ENST00000290866.9:c.53_70dup	ENSP00000290866.4:p.Pro23_Pro24insLeuLeuLeuLeuLeuPro
ENST00000428043.5:c.53_70dup	ENSP00000397593.2:p.Pro23_Pro24insLeuLeuLeuLeuLeuPro
ENST00000579462.1:n.78_95dup
ENST00000582678.5:c.53_70dup	ENSP00000462995.1:p.Pro23_Pro24insLeuLeuLeuLeuLeuPro
ENST00000583336.5:n.87_104dup
ENST00000584529.5:n.87_104dup
NM_000789.3:c.53_70dup	NP_000780.1:p.Pro23_Pro24insLeuLeuLeuLeuLeuPro
XM_005257110.1:c.-403_-386dup	XP_005257167.1:n.-403_-386dup
NM_000789.4:c.53_70dup MANE Select	NP_000780.1:p.Pro23_Pro24insLeuLeuLeuLeuLeuPro
NM_001382700.1:c.-183_-166dup	NP_001369629.1:n.-183_-166dup
NM_001382701.1:c.-562_-545dup	NP_001369630.1:n.-562_-545dup