Canonical Allele Identifier: CA2383551565
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891662_25891664delinsAAG , CM000683.2:g.25891662_25891664delinsAAG GRCh38
NC_000021.8:g.27263974_27263976delinsAAG , CM000683.1:g.27263974_27263976delinsAAG GRCh37
NC_000021.7:g.26185845_26185847delinsAAG NCBI36
NG_007376.1:g.284157_284159delinsCTT
NG_007376.2:g.284465_284467delinsCTT

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2178+58_2178+60delinsCTT
ENST00000707133.1:n.608+58_608+60delinsCTT
ENST00000707134.1:n.877+58_877+60delinsCTT
ENST00000346798.8:c.2211+58_2211+60delinsCTT MANE Select ENSP00000284981.4:n.2211+58_2211+60delins...
ENST00000346798.7:c.2211+58_2211+60delinsCTT ENSP00000284981.4:n.2211+58_2211+60delins...
ENST00000348990.9:c.1986+58_1986+60delinsCTT ENSP00000345463.5:n.1986+58_1986+60delins...
ENST00000354192.7:c.1818+58_1818+60delinsCTT ENSP00000346129.3:n.1818+58_1818+60delins...
ENST00000357903.7:c.2154+58_2154+60delinsCTT ENSP00000350578.3:n.2154+58_2154+60delins...
ENST00000358918.7:c.2157+58_2157+60delinsCTT ENSP00000351796.3:n.2157+58_2157+60delins...
ENST00000359726.7:c.1881+58_1881+60delinsCTT ENSP00000352760.4:n.1881+58_1881+60delins...
ENST00000439274.6:c.2043+58_2043+60delinsCTT ENSP00000398879.2:n.2043+58_2043+60delins...
ENST00000440126.7:c.2139+58_2139+60delinsCTT ENSP00000387483.2:n.2139+58_2139+60delins...
ENST00000464867.1:n.558+58_558+60delinsCTT
NM_000484.3:c.2211+58_2211+60delinsCTT NP_000475.1:n.2211+58_2211+60delinsCTT
NM_001136016.3:c.2139+58_2139+60delinsCTT NP_001129488.1:n.2139+58_2139+60delinsCTT...
NM_001136129.2:c.1818+58_1818+60delinsCTT NP_001129601.1:n.1818+58_1818+60delinsCTT...
NM_001136130.2:c.2043+58_2043+60delinsCTT NP_001129602.1:n.2043+58_2043+60delinsCTT...
NM_001136131.2:c.1881+58_1881+60delinsCTT NP_001129603.1:n.1881+58_1881+60delinsCTT...
NM_001204301.1:c.2157+58_2157+60delinsCTT NP_001191230.1:n.2157+58_2157+60delinsCTT...
NM_001204302.1:c.2100+58_2100+60delinsCTT NP_001191231.1:n.2100+58_2100+60delinsCTT...
NM_001204303.1:c.1932+58_1932+60delinsCTT NP_001191232.1:n.1932+58_1932+60delinsCTT...
NM_201413.2:c.2154+58_2154+60delinsCTT NP_958816.1:n.2154+58_2154+60delinsCTT
NM_201414.2:c.1986+58_1986+60delinsCTT NP_958817.1:n.1986+58_1986+60delinsCTT
NM_000484.4:c.2211+58_2211+60delinsCTT MANE Select NP_000475.1:n.2211+58_2211+60delinsCTT
NM_001136129.3:c.1818+58_1818+60delinsCTT NP_001129601.1:n.1818+58_1818+60delinsCTT...
NM_001136130.3:c.2043+58_2043+60delinsCTT NP_001129602.1:n.2043+58_2043+60delinsCTT...
NM_001204301.2:c.2157+58_2157+60delinsCTT NP_001191230.1:n.2157+58_2157+60delinsCTT...
NM_001204302.2:c.2100+58_2100+60delinsCTT NP_001191231.1:n.2100+58_2100+60delinsCTT...
NM_001204303.2:c.1932+58_1932+60delinsCTT NP_001191232.1:n.1932+58_1932+60delinsCTT...
NM_201413.3:c.2154+58_2154+60delinsCTT NP_958816.1:n.2154+58_2154+60delinsCTT
NM_201414.3:c.1986+58_1986+60delinsCTT NP_958817.1:n.1986+58_1986+60delinsCTT
NM_001136131.3:c.1881+58_1881+60delinsCTT NP_001129603.1:n.1881+58_1881+60delinsCTT...
NM_001385253.1:c.2043+58_2043+60delinsCTT NP_001372182.1:n.2043+58_2043+60delinsCTT...