Canonical Allele Identifier: CA511686140
Gene: APP HGNC NCBI

Linked Data

dbSNP Id: rs1384124169

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897586_25897588del , CM000683.2:g.25897586_25897588del GRCh38
NC_000021.8:g.27269898_27269900del , CM000683.1:g.27269898_27269900del GRCh37
NC_000021.7:g.26191769_26191771del NCBI36
NG_007376.1:g.278239_278241del
NG_007376.2:g.278547_278549del

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2022_2024del
ENST00000707133.1:n.452_454del
ENST00000707134.1:n.721_723del
ENST00000346798.8:c.2055_2057del MANE Select ENSP00000284981.4:p.His685del
ENST00000346798.7:c.2055_2057del ENSP00000284981.4:p.His685del
ENST00000348990.9:c.1830_1832del ENSP00000345463.5:p.His610del
ENST00000354192.7:c.1662_1664del ENSP00000346129.3:p.His554del
ENST00000357903.7:c.1998_2000del ENSP00000350578.3:p.His666del
ENST00000358918.7:c.2001_2003del ENSP00000351796.3:p.His667del
ENST00000359726.7:c.1725_1727del ENSP00000352760.4:p.His575del
ENST00000439274.6:c.1887_1889del ENSP00000398879.2:p.His629del
ENST00000440126.7:c.1983_1985del ENSP00000387483.2:p.His661del
ENST00000464867.1:n.402_404del
NM_000484.3:c.2055_2057del NP_000475.1:p.His685del
NM_001136016.3:c.1983_1985del NP_001129488.1:p.His661del
NM_001136129.2:c.1662_1664del NP_001129601.1:p.His554del
NM_001136130.2:c.1887_1889del NP_001129602.1:p.His629del
NM_001136131.2:c.1725_1727del NP_001129603.1:p.His575del
NM_001204301.1:c.2001_2003del NP_001191230.1:p.His667del
NM_001204302.1:c.1944_1946del NP_001191231.1:p.His648del
NM_001204303.1:c.1776_1778del NP_001191232.1:p.His592del
NM_201413.2:c.1998_2000del NP_958816.1:p.His666del
NM_201414.2:c.1830_1832del NP_958817.1:p.His610del
NM_000484.4:c.2055_2057del MANE Select NP_000475.1:p.His685del
NM_001136129.3:c.1662_1664del NP_001129601.1:p.His554del
NM_001136130.3:c.1887_1889del NP_001129602.1:p.His629del
NM_001204301.2:c.2001_2003del NP_001191230.1:p.His667del
NM_001204302.2:c.1944_1946del NP_001191231.1:p.His648del
NM_001204303.2:c.1776_1778del NP_001191232.1:p.His592del
NM_201413.3:c.1998_2000del NP_958816.1:p.His666del
NM_201414.3:c.1830_1832del NP_958817.1:p.His610del
NM_001136131.3:c.1725_1727del NP_001129603.1:p.His575del
NM_001385253.1:c.1887_1889del NP_001372182.1:p.His629del