Canonical Allele Identifier: CA2383551575
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891675_25891677delinsTCA , CM000683.2:g.25891675_25891677delinsTCA GRCh38
NC_000021.8:g.27263987_27263989delinsTCA , CM000683.1:g.27263987_27263989delinsTCA GRCh37
NC_000021.7:g.26185858_26185860delinsTCA NCBI36
NG_007376.1:g.284144_284146delinsTGA
NG_007376.2:g.284452_284454delinsTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000707132.1:n.2178+45_2178+47delinsTGA
ENST00000707133.1:n.608+45_608+47delinsTGA
ENST00000707134.1:n.877+45_877+47delinsTGA
ENST00000346798.8:c.2211+45_2211+47delinsTGA MANE Select ENSP00000284981.4:n.2211+45_2211+47delinsTGA
ENST00000346798.7:c.2211+45_2211+47delinsTGA ENSP00000284981.4:n.2211+45_2211+47delinsTGA
ENST00000348990.9:c.1986+45_1986+47delinsTGA ENSP00000345463.5:n.1986+45_1986+47delinsTGA
ENST00000354192.7:c.1818+45_1818+47delinsTGA ENSP00000346129.3:n.1818+45_1818+47delinsTGA
ENST00000357903.7:c.2154+45_2154+47delinsTGA ENSP00000350578.3:n.2154+45_2154+47delinsTGA
ENST00000358918.7:c.2157+45_2157+47delinsTGA ENSP00000351796.3:n.2157+45_2157+47delinsTGA
ENST00000359726.7:c.1881+45_1881+47delinsTGA ENSP00000352760.4:n.1881+45_1881+47delinsTGA
ENST00000439274.6:c.2043+45_2043+47delinsTGA ENSP00000398879.2:n.2043+45_2043+47delinsTGA
ENST00000440126.7:c.2139+45_2139+47delinsTGA ENSP00000387483.2:n.2139+45_2139+47delinsTGA
ENST00000464867.1:n.558+45_558+47delinsTGA
NM_000484.3:c.2211+45_2211+47delinsTGA NP_000475.1:n.2211+45_2211+47delinsTGA
NM_001136016.3:c.2139+45_2139+47delinsTGA NP_001129488.1:n.2139+45_2139+47delinsTGA
NM_001136129.2:c.1818+45_1818+47delinsTGA NP_001129601.1:n.1818+45_1818+47delinsTGA
NM_001136130.2:c.2043+45_2043+47delinsTGA NP_001129602.1:n.2043+45_2043+47delinsTGA
NM_001136131.2:c.1881+45_1881+47delinsTGA NP_001129603.1:n.1881+45_1881+47delinsTGA
NM_001204301.1:c.2157+45_2157+47delinsTGA NP_001191230.1:n.2157+45_2157+47delinsTGA
NM_001204302.1:c.2100+45_2100+47delinsTGA NP_001191231.1:n.2100+45_2100+47delinsTGA
NM_001204303.1:c.1932+45_1932+47delinsTGA NP_001191232.1:n.1932+45_1932+47delinsTGA
NM_201413.2:c.2154+45_2154+47delinsTGA NP_958816.1:n.2154+45_2154+47delinsTGA
NM_201414.2:c.1986+45_1986+47delinsTGA NP_958817.1:n.1986+45_1986+47delinsTGA
NM_000484.4:c.2211+45_2211+47delinsTGA MANE Select NP_000475.1:n.2211+45_2211+47delinsTGA
NM_001136129.3:c.1818+45_1818+47delinsTGA NP_001129601.1:n.1818+45_1818+47delinsTGA
NM_001136130.3:c.2043+45_2043+47delinsTGA NP_001129602.1:n.2043+45_2043+47delinsTGA
NM_001204301.2:c.2157+45_2157+47delinsTGA NP_001191230.1:n.2157+45_2157+47delinsTGA
NM_001204302.2:c.2100+45_2100+47delinsTGA NP_001191231.1:n.2100+45_2100+47delinsTGA
NM_001204303.2:c.1932+45_1932+47delinsTGA NP_001191232.1:n.1932+45_1932+47delinsTGA
NM_201413.3:c.2154+45_2154+47delinsTGA NP_958816.1:n.2154+45_2154+47delinsTGA
NM_201414.3:c.1986+45_1986+47delinsTGA NP_958817.1:n.1986+45_1986+47delinsTGA
NM_001136131.3:c.1881+45_1881+47delinsTGA NP_001129603.1:n.1881+45_1881+47delinsTGA
NM_001385253.1:c.2043+45_2043+47delinsTGA NP_001372182.1:n.2043+45_2043+47delinsTGA