Canonical Allele Identifier: CA627147850

Gene: ACE

Linked Data

• dbSNP Id: rs1219116776
• gnomAD v2: 17-61555444-G-GGCT
• gnomAD v3: 17-63478083-G-GGCT
• gnomAD v4: 17-63478083-G-GGCT
• MyVariant Identifiers: chr17:g.61555444_61555445insGCT (hg19) ; chr17:g.63478083_63478084insGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478084_63478086dup , CM000679.2:g.63478084_63478086dup	GRCh38
NC_000017.10:g.61555445_61555447dup , CM000679.1:g.61555445_61555447dup	GRCh37
NC_000017.9:g.58909177_58909179dup	NCBI36
NG_011648.1:g.6012_6014dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.403_405dup MANE Select	ENSP00000290866.4:p.Ala135_Lys136insAla
ENST00000290866.9:c.403_405dup	ENSP00000290866.4:p.Ala135_Lys136insAla
ENST00000428043.5:c.403_405dup	ENSP00000397593.2:p.Ala135_Lys136insAla
ENST00000579462.1:n.428_430dup
ENST00000580318.1:n.592_594dup
ENST00000582627.1:c.403_405dup	ENSP00000462280.1:p.Ala135_Lys136insAla
ENST00000582678.5:c.403_405dup	ENSP00000462995.1:p.Ala135_Lys136insAla
ENST00000583336.5:n.437_439dup
ENST00000584529.5:n.437_439dup
NM_000789.3:c.403_405dup	NP_000780.1:p.Ala135_Lys136insAla
XM_005257110.1:c.-53_-51dup	XP_005257167.1:n.-53_-51dup
NM_000789.4:c.403_405dup MANE Select	NP_000780.1:p.Ala135_Lys136insAla
NM_001382700.1:c.168_170dup	NP_001369629.1:p.Leu57_Ser58insLeu
NM_001382701.1:c.-212_-210dup	NP_001369630.1:n.-212_-210dup