Canonical Allele Identifier: CA2639236797

Gene: ACE

Linked Data

• gnomAD v4: 17-63477141-T-TGCCGCTGCTGTTGCTGCTGCCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477144_63477167dup , CM000679.2:g.63477144_63477167dup	GRCh38
NC_000017.10:g.61554505_61554528dup , CM000679.1:g.61554505_61554528dup	GRCh37
NC_000017.9:g.58908237_58908260dup	NCBI36
NG_011648.1:g.5072_5095dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.50_73dup MANE Select	ENSP00000290866.4:p.Pro24_Gln25insProLeuLeuLeuLeuLeuProPro
ENST00000290866.9:c.50_73dup	ENSP00000290866.4:p.Pro24_Gln25insProLeuLeuLeuLeuLeuProPro
ENST00000428043.5:c.50_73dup	ENSP00000397593.2:p.Pro24_Gln25insProLeuLeuLeuLeuLeuProPro
ENST00000579462.1:n.75_98dup
ENST00000582678.5:c.50_73dup	ENSP00000462995.1:p.Pro24_Gln25insProLeuLeuLeuLeuLeuProPro
ENST00000583336.5:n.84_107dup
ENST00000584529.5:n.84_107dup
NM_000789.3:c.50_73dup	NP_000780.1:p.Pro24_Gln25insProLeuLeuLeuLeuLeuProPro
XM_005257110.1:c.-406_-383dup	XP_005257167.1:n.-406_-383dup
NM_000789.4:c.50_73dup MANE Select	NP_000780.1:p.Pro24_Gln25insProLeuLeuLeuLeuLeuProPro
NM_001382700.1:c.-186_-163dup	NP_001369629.1:n.-186_-163dup
NM_001382701.1:c.-565_-542dup	NP_001369630.1:n.-565_-542dup