Canonical Allele Identifier: CA2383551597
Gene: APP HGNC NCBI

Linked Data

dbSNP Id: rs2037710153

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891733_25891734dup , CM000683.2:g.25891733_25891734dup GRCh38
NC_000021.8:g.27264045_27264046dup , CM000683.1:g.27264045_27264046dup GRCh37
NC_000021.7:g.26185916_26185917dup NCBI36
NG_007376.1:g.284087_284088dup
NG_007376.2:g.284395_284396dup

Transcript Alleles

HGVS Amino-acid change
ENST00000346798.8:c.2199_2200dup MANE Select ENSP00000284981.4:p.Gly734ValfsTer?
ENST00000346798.7:c.2199_2200dup ENSP00000284981.4:p.Gly734ValfsTer?
ENST00000348990.9:c.1974_1975dup ENSP00000345463.5:p.Gly659ValfsTer?
ENST00000354192.7:c.1806_1807dup ENSP00000346129.3:p.Gly603ValfsTer?
ENST00000357903.7:c.2142_2143dup ENSP00000350578.3:p.Gly715ValfsTer?
ENST00000358918.7:c.2145_2146dup ENSP00000351796.3:p.Gly716ValfsTer?
ENST00000359726.7:c.1869_1870dup ENSP00000352760.4:p.Gly624ValfsTer?
ENST00000439274.6:c.2031_2032dup ENSP00000398879.2:p.Gly678ValfsTer?
ENST00000440126.7:c.2127_2128dup ENSP00000387483.2:p.Gly710ValfsTer?
ENST00000464867.1:n.546_547dup
NM_000484.3:c.2199_2200dup NP_000475.1:p.Gly734ValfsTer?
NM_001136016.3:c.2127_2128dup NP_001129488.1:p.Gly710ValfsTer?
NM_001136129.2:c.1806_1807dup NP_001129601.1:p.Gly603ValfsTer?
NM_001136130.2:c.2031_2032dup NP_001129602.1:p.Gly678ValfsTer?
NM_001136131.2:c.1869_1870dup NP_001129603.1:p.Gly624ValfsTer?
NM_001204301.1:c.2145_2146dup NP_001191230.1:p.Gly716ValfsTer?
NM_001204302.1:c.2088_2089dup NP_001191231.1:p.Gly697ValfsTer?
NM_001204303.1:c.1920_1921dup NP_001191232.1:p.Gly641ValfsTer?
NM_201413.2:c.2142_2143dup NP_958816.1:p.Gly715ValfsTer?
NM_201414.2:c.1974_1975dup NP_958817.1:p.Gly659ValfsTer?
NM_000484.4:c.2199_2200dup MANE Select NP_000475.1:p.Gly734ValfsTer?
NM_001136129.3:c.1806_1807dup NP_001129601.1:p.Gly603ValfsTer?
NM_001136130.3:c.2031_2032dup NP_001129602.1:p.Gly678ValfsTer?
NM_001204301.2:c.2145_2146dup NP_001191230.1:p.Gly716ValfsTer?
NM_001204302.2:c.2088_2089dup NP_001191231.1:p.Gly697ValfsTer?
NM_001204303.2:c.1920_1921dup NP_001191232.1:p.Gly641ValfsTer?
NM_201413.3:c.2142_2143dup NP_958816.1:p.Gly715ValfsTer?
NM_201414.3:c.1974_1975dup NP_958817.1:p.Gly659ValfsTer?
NM_001136131.3:c.1869_1870dup NP_001129603.1:p.Gly624ValfsTer?
NM_001385253.1:c.2031_2032dup NP_001372182.1:p.Gly678ValfsTer?