Canonical Allele Identifier: CA773965892

Gene: ACE

Linked Data

• dbSNP Id: rs1295900542
• MyVariant Identifiers: chr17:g.61564200_61564201insA (hg19) ; chr17:g.63486839_63486840insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486840dup , CM000679.2:g.63486840dup	GRCh38
NC_000017.10:g.61564201dup , CM000679.1:g.61564201dup	GRCh37
NC_000017.9:g.58917933dup	NCBI36
NG_011648.1:g.14768dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2217+125dup MANE Select	ENSP00000290866.4:n.2217+125dup
ENST00000290863.10:c.495+125dup	ENSP00000290863.6:n.495+125dup
ENST00000290866.9:c.2217+125dup	ENSP00000290866.4:n.2217+125dup
ENST00000413513.7:c.495+125dup	ENSP00000392247.3:n.495+125dup
ENST00000428043.5:c.2217+125dup	ENSP00000397593.2:n.2217+125dup
ENST00000577647.2:c.495+125dup	ENSP00000464149.1:n.495+125dup
ENST00000578839.5:c.*287+125dup	ENSP00000462110.2:n.*287+125dup
ENST00000579204.1:c.398+125dup	ENSP00000464629.1:n.398+125dup
ENST00000579314.5:c.495+125dup	ENSP00000462599.1:n.495+125dup
ENST00000579726.5:c.779+125dup
ENST00000582005.5:c.*137+125dup	ENSP00000462002.1:n.*137+125dup
ENST00000584865.5:n.18dup
NM_000789.3:c.2217+125dup	NP_000780.1:n.2217+125dup
NM_001178057.1:c.495+125dup	NP_001171528.1:n.495+125dup
NM_152830.2:c.495+125dup	NP_690043.1:n.495+125dup
XM_005257110.1:c.1668+125dup	XP_005257167.1:n.1668+125dup
XM_006721737.2:c.555+125dup	XP_006721800.2:n.555+125dup
XM_006721737.3:c.555+125dup	XP_006721800.2:n.555+125dup
NM_000789.4:c.2217+125dup MANE Select	NP_000780.1:n.2217+125dup
NM_001178057.2:c.495+125dup	NP_001171528.1:n.495+125dup
NM_152830.3:c.495+125dup	NP_690043.1:n.495+125dup
NM_001382700.1:c.1650+125dup	NP_001369629.1:n.1650+125dup
NM_001382701.1:c.1365+125dup	NP_001369630.1:n.1365+125dup
NM_001382702.1:c.147+125dup	NP_001369631.1:n.147+125dup
NR_168483.1:n.517+125dup