Canonical Allele Identifier: CA773987991

Gene: ACE

Linked Data

• dbSNP Id: rs1437482955
• gnomAD v3: 17-63477147-T-TGCTGTTGCTGCTGCCGCC
• gnomAD v4: 17-63477147-T-TGCTGTTGCTGCTGCCGCC
• MyVariant Identifiers: chr17:g.61554508_61554509insGCTGTTGCTGCTGCCGCC (hg19) ; chr17:g.63477147_63477148insGCTGTTGCTGCTGCCGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477150_63477167dup , CM000679.2:g.63477150_63477167dup	GRCh38
NC_000017.10:g.61554511_61554528dup , CM000679.1:g.61554511_61554528dup	GRCh37
NC_000017.9:g.58908243_58908260dup	NCBI36
NG_011648.1:g.5078_5095dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.56_73dup MANE Select	ENSP00000290866.4:p.Pro24_Gln25insLeuLeuLeuLeuProPro
ENST00000290866.9:c.56_73dup	ENSP00000290866.4:p.Pro24_Gln25insLeuLeuLeuLeuProPro
ENST00000428043.5:c.56_73dup	ENSP00000397593.2:p.Pro24_Gln25insLeuLeuLeuLeuProPro
ENST00000579462.1:n.81_98dup
ENST00000582678.5:c.56_73dup	ENSP00000462995.1:p.Pro24_Gln25insLeuLeuLeuLeuProPro
ENST00000583336.5:n.90_107dup
ENST00000584529.5:n.90_107dup
NM_000789.3:c.56_73dup	NP_000780.1:p.Pro24_Gln25insLeuLeuLeuLeuProPro
XM_005257110.1:c.-400_-383dup	XP_005257167.1:n.-400_-383dup
NM_000789.4:c.56_73dup MANE Select	NP_000780.1:p.Pro24_Gln25insLeuLeuLeuLeuProPro
NM_001382700.1:c.-180_-163dup	NP_001369629.1:n.-180_-163dup
NM_001382701.1:c.-559_-542dup	NP_001369630.1:n.-559_-542dup