Canonical Allele Identifier: CA2383551405
Gene: APP HGNC NCBI

Linked Data

dbSNP Id: rs967976341

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891339_25891341del , CM000683.2:g.25891339_25891341del GRCh38
NC_000021.8:g.27263651_27263653del , CM000683.1:g.27263651_27263653del GRCh37
NC_000021.7:g.26185522_26185524del NCBI36
NG_007376.1:g.284484_284486del
NG_007376.2:g.284792_284794del

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2178+385_2178+387del
ENST00000707133.1:n.608+385_608+387del
ENST00000707134.1:n.877+385_877+387del
ENST00000346798.8:c.2211+385_2211+387del MANE Select ENSP00000284981.4:n.2211+385_2211+387del
ENST00000346798.7:c.2211+385_2211+387del ENSP00000284981.4:n.2211+385_2211+387del
ENST00000348990.9:c.1986+385_1986+387del ENSP00000345463.5:n.1986+385_1986+387del
ENST00000354192.7:c.1818+385_1818+387del ENSP00000346129.3:n.1818+385_1818+387del
ENST00000357903.7:c.2154+385_2154+387del ENSP00000350578.3:n.2154+385_2154+387del
ENST00000358918.7:c.2157+385_2157+387del ENSP00000351796.3:n.2157+385_2157+387del
ENST00000359726.7:c.1881+385_1881+387del ENSP00000352760.4:n.1881+385_1881+387del
ENST00000439274.6:c.2043+385_2043+387del ENSP00000398879.2:n.2043+385_2043+387del
ENST00000440126.7:c.2139+385_2139+387del ENSP00000387483.2:n.2139+385_2139+387del
ENST00000464867.1:n.558+385_558+387del
NM_000484.3:c.2211+385_2211+387del NP_000475.1:n.2211+385_2211+387del
NM_001136016.3:c.2139+385_2139+387del NP_001129488.1:n.2139+385_2139+387del
NM_001136129.2:c.1818+385_1818+387del NP_001129601.1:n.1818+385_1818+387del
NM_001136130.2:c.2043+385_2043+387del NP_001129602.1:n.2043+385_2043+387del
NM_001136131.2:c.1881+385_1881+387del NP_001129603.1:n.1881+385_1881+387del
NM_001204301.1:c.2157+385_2157+387del NP_001191230.1:n.2157+385_2157+387del
NM_001204302.1:c.2100+385_2100+387del NP_001191231.1:n.2100+385_2100+387del
NM_001204303.1:c.1932+385_1932+387del NP_001191232.1:n.1932+385_1932+387del
NM_201413.2:c.2154+385_2154+387del NP_958816.1:n.2154+385_2154+387del
NM_201414.2:c.1986+385_1986+387del NP_958817.1:n.1986+385_1986+387del
NM_000484.4:c.2211+385_2211+387del MANE Select NP_000475.1:n.2211+385_2211+387del
NM_001136129.3:c.1818+385_1818+387del NP_001129601.1:n.1818+385_1818+387del
NM_001136130.3:c.2043+385_2043+387del NP_001129602.1:n.2043+385_2043+387del
NM_001204301.2:c.2157+385_2157+387del NP_001191230.1:n.2157+385_2157+387del
NM_001204302.2:c.2100+385_2100+387del NP_001191231.1:n.2100+385_2100+387del
NM_001204303.2:c.1932+385_1932+387del NP_001191232.1:n.1932+385_1932+387del
NM_201413.3:c.2154+385_2154+387del NP_958816.1:n.2154+385_2154+387del
NM_201414.3:c.1986+385_1986+387del NP_958817.1:n.1986+385_1986+387del
NM_001136131.3:c.1881+385_1881+387del NP_001129603.1:n.1881+385_1881+387del
NM_001385253.1:c.2043+385_2043+387del NP_001372182.1:n.2043+385_2043+387del