Canonical Allele Identifier: CA2383551513
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891580_25891583delinsGAAC , CM000683.2:g.25891580_25891583delinsGAAC GRCh38
NC_000021.8:g.27263892_27263895delinsGAAC , CM000683.1:g.27263892_27263895delinsGAAC GRCh37
NC_000021.7:g.26185763_26185766delinsGAAC NCBI36
NG_007376.1:g.284238_284241delinsGTTC
NG_007376.2:g.284546_284549delinsGTTC

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2178+139_2178+142delinsGTTC
ENST00000707133.1:n.608+139_608+142delinsGTTC
ENST00000707134.1:n.877+139_877+142delinsGTTC
ENST00000346798.8:c.2211+139_2211+142delinsGTTC MANE Select ENSP00000284981.4:n.2211+139_2211+142delinsGTTC
ENST00000346798.7:c.2211+139_2211+142delinsGTTC ENSP00000284981.4:n.2211+139_2211+142delinsGTTC
ENST00000348990.9:c.1986+139_1986+142delinsGTTC ENSP00000345463.5:n.1986+139_1986+142delinsGTTC
ENST00000354192.7:c.1818+139_1818+142delinsGTTC ENSP00000346129.3:n.1818+139_1818+142delinsGTTC
ENST00000357903.7:c.2154+139_2154+142delinsGTTC ENSP00000350578.3:n.2154+139_2154+142delinsGTTC
ENST00000358918.7:c.2157+139_2157+142delinsGTTC ENSP00000351796.3:n.2157+139_2157+142delinsGTTC
ENST00000359726.7:c.1881+139_1881+142delinsGTTC ENSP00000352760.4:n.1881+139_1881+142delinsGTTC
ENST00000439274.6:c.2043+139_2043+142delinsGTTC ENSP00000398879.2:n.2043+139_2043+142delinsGTTC
ENST00000440126.7:c.2139+139_2139+142delinsGTTC ENSP00000387483.2:n.2139+139_2139+142delinsGTTC
ENST00000464867.1:n.558+139_558+142delinsGTTC
NM_000484.3:c.2211+139_2211+142delinsGTTC NP_000475.1:n.2211+139_2211+142delinsGTTC
NM_001136016.3:c.2139+139_2139+142delinsGTTC NP_001129488.1:n.2139+139_2139+142delinsGTTC
NM_001136129.2:c.1818+139_1818+142delinsGTTC NP_001129601.1:n.1818+139_1818+142delinsGTTC
NM_001136130.2:c.2043+139_2043+142delinsGTTC NP_001129602.1:n.2043+139_2043+142delinsGTTC
NM_001136131.2:c.1881+139_1881+142delinsGTTC NP_001129603.1:n.1881+139_1881+142delinsGTTC
NM_001204301.1:c.2157+139_2157+142delinsGTTC NP_001191230.1:n.2157+139_2157+142delinsGTTC
NM_001204302.1:c.2100+139_2100+142delinsGTTC NP_001191231.1:n.2100+139_2100+142delinsGTTC
NM_001204303.1:c.1932+139_1932+142delinsGTTC NP_001191232.1:n.1932+139_1932+142delinsGTTC
NM_201413.2:c.2154+139_2154+142delinsGTTC NP_958816.1:n.2154+139_2154+142delinsGTTC
NM_201414.2:c.1986+139_1986+142delinsGTTC NP_958817.1:n.1986+139_1986+142delinsGTTC
NM_000484.4:c.2211+139_2211+142delinsGTTC MANE Select NP_000475.1:n.2211+139_2211+142delinsGTTC
NM_001136129.3:c.1818+139_1818+142delinsGTTC NP_001129601.1:n.1818+139_1818+142delinsGTTC
NM_001136130.3:c.2043+139_2043+142delinsGTTC NP_001129602.1:n.2043+139_2043+142delinsGTTC
NM_001204301.2:c.2157+139_2157+142delinsGTTC NP_001191230.1:n.2157+139_2157+142delinsGTTC
NM_001204302.2:c.2100+139_2100+142delinsGTTC NP_001191231.1:n.2100+139_2100+142delinsGTTC
NM_001204303.2:c.1932+139_1932+142delinsGTTC NP_001191232.1:n.1932+139_1932+142delinsGTTC
NM_201413.3:c.2154+139_2154+142delinsGTTC NP_958816.1:n.2154+139_2154+142delinsGTTC
NM_201414.3:c.1986+139_1986+142delinsGTTC NP_958817.1:n.1986+139_1986+142delinsGTTC
NM_001136131.3:c.1881+139_1881+142delinsGTTC NP_001129603.1:n.1881+139_1881+142delinsGTTC
NM_001385253.1:c.2043+139_2043+142delinsGTTC NP_001372182.1:n.2043+139_2043+142delinsGTTC