Canonical Allele Identifier: CA8700138

Gene: ACE

Linked Data

• dbSNP Id: rs778824663
• ExAC: 17:61566350 C / CCCTGGAGCAAGA
• gnomAD v2: 17-61566350-C-CCCTGGAGCAAGA
• MyVariant Identifiers: chr17:g.61566350_61566351insCCTGGAGCAAGA (hg19) ; chr17:g.63488989_63488990insCCTGGAGCAAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488998_63489009dup , CM000679.2:g.63488998_63489009dup	GRCh38
NC_000017.10:g.61566359_61566370dup , CM000679.1:g.61566359_61566370dup	GRCh37
NC_000017.9:g.58920091_58920102dup	NCBI36
NG_011648.1:g.16926_16937dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2507_2518dup MANE Select	ENSP00000290866.4:p.Glu839_Arg840insGlnAspLeuGlu
ENST00000290863.10:c.785_796dup	ENSP00000290863.6:p.Glu265_Arg266insGlnAspLeuGlu
ENST00000290866.9:c.2507_2518dup	ENSP00000290866.4:p.Glu839_Arg840insGlnAspLeuGlu
ENST00000413513.7:c.785_796dup	ENSP00000392247.3:p.Glu265_Arg266insGlnAspLeuGlu
ENST00000428043.5:c.2507_2518dup	ENSP00000397593.2:p.Glu839_Arg840insGlnAspLeuGlu
ENST00000577647.2:c.785_796dup	ENSP00000464149.1:p.Glu265_Arg266insGlnAspLeuGlu
ENST00000578839.5:c.*519+207_*519+218dup	ENSP00000462110.2:n.*519+207_*519+218dup
ENST00000579204.1:c.766_777dup	ENSP00000464629.1:n.766_777dup
ENST00000579314.5:c.*236_*247dup	ENSP00000462599.1:n.*236_*247dup
ENST00000582005.5:c.*427_*438dup	ENSP00000462002.1:n.*427_*438dup
ENST00000582761.1:c.275_286dup	ENSP00000462909.1:p.Glu95_Arg96insGlnAspLeuGlu
ENST00000584865.5:n.453_464dup
NM_000789.3:c.2507_2518dup	NP_000780.1:p.Glu839_Arg840insGlnAspLeuGlu
NM_001178057.1:c.785_796dup	NP_001171528.1:p.Glu265_Arg266insGlnAspLeuGlu
NM_152830.2:c.785_796dup	NP_690043.1:p.Glu265_Arg266insGlnAspLeuGlu
XM_005257110.1:c.1958_1969dup	XP_005257167.1:p.Glu656_Arg657insGlnAspLeuGlu
XM_006721737.2:c.845_856dup	XP_006721800.2:p.Glu285_Arg286insGlnAspLeuGlu
XM_006721737.3:c.845_856dup	XP_006721800.2:p.Glu285_Arg286insGlnAspLeuGlu
NM_000789.4:c.2507_2518dup MANE Select	NP_000780.1:p.Glu839_Arg840insGlnAspLeuGlu
NM_001178057.2:c.785_796dup	NP_001171528.1:p.Glu265_Arg266insGlnAspLeuGlu
NM_152830.3:c.785_796dup	NP_690043.1:p.Glu265_Arg266insGlnAspLeuGlu
NM_001382700.1:c.1940_1951dup	NP_001369629.1:p.Glu650_Arg651insGlnAspLeuGlu
NM_001382701.1:c.1655_1666dup	NP_001369630.1:p.Glu555_Arg556insGlnAspLeuGlu
NM_001382702.1:c.379+207_379+218dup	NP_001369631.1:n.379+207_379+218dup
NR_168483.1:n.885_896dup