Canonical Allele Identifier: CA2639236732

Gene: ACE

Linked Data

• gnomAD v4: 17-63477131-C-CTGCTGCCGCTGCCGCTGCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477138_63477158dup , CM000679.2:g.63477138_63477158dup	GRCh38
NC_000017.10:g.61554499_61554519dup , CM000679.1:g.61554499_61554519dup	GRCh37
NC_000017.9:g.58908231_58908251dup	NCBI36
NG_011648.1:g.5066_5086dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.44_64dup MANE Select	ENSP00000290866.4:p.Leu21_Leu22insProLeuProLeuLeuLeuLeu
ENST00000290866.9:c.44_64dup	ENSP00000290866.4:p.Leu21_Leu22insProLeuProLeuLeuLeuLeu
ENST00000428043.5:c.44_64dup	ENSP00000397593.2:p.Leu21_Leu22insProLeuProLeuLeuLeuLeu
ENST00000579462.1:n.69_89dup
ENST00000582678.5:c.44_64dup	ENSP00000462995.1:p.Leu21_Leu22insProLeuProLeuLeuLeuLeu
ENST00000583336.5:n.78_98dup
ENST00000584529.5:n.78_98dup
NM_000789.3:c.44_64dup	NP_000780.1:p.Leu21_Leu22insProLeuProLeuLeuLeuLeu
XM_005257110.1:c.-412_-392dup	XP_005257167.1:n.-412_-392dup
NM_000789.4:c.44_64dup MANE Select	NP_000780.1:p.Leu21_Leu22insProLeuProLeuLeuLeuLeu
NM_001382700.1:c.-192_-172dup	NP_001369629.1:n.-192_-172dup
NM_001382701.1:c.-571_-551dup	NP_001369630.1:n.-571_-551dup