Canonical Allele Identifier: CA2639236860

Gene: ACE

Linked Data

• gnomAD v4: 17-63477152-T-TTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477159_63477161dup , CM000679.2:g.63477159_63477161dup	GRCh38
NC_000017.10:g.61554520_61554522dup , CM000679.1:g.61554520_61554522dup	GRCh37
NC_000017.9:g.58908252_58908254dup	NCBI36
NG_011648.1:g.5087_5089dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.65_67dup MANE Select	ENSP00000290866.4:p.Leu22_Pro23insLeu
ENST00000290866.9:c.65_67dup	ENSP00000290866.4:p.Leu22_Pro23insLeu
ENST00000428043.5:c.65_67dup	ENSP00000397593.2:p.Leu22_Pro23insLeu
ENST00000579462.1:n.90_92dup
ENST00000582678.5:c.65_67dup	ENSP00000462995.1:p.Leu22_Pro23insLeu
ENST00000583336.5:n.99_101dup
ENST00000584529.5:n.99_101dup
NM_000789.3:c.65_67dup	NP_000780.1:p.Leu22_Pro23insLeu
XM_005257110.1:c.-391_-389dup	XP_005257167.1:n.-391_-389dup
NM_000789.4:c.65_67dup MANE Select	NP_000780.1:p.Leu22_Pro23insLeu
NM_001382700.1:c.-171_-169dup	NP_001369629.1:n.-171_-169dup
NM_001382701.1:c.-550_-548dup	NP_001369630.1:n.-550_-548dup