Canonical Allele Identifier: CA2526347480
Community Standard Title: NM_000484.4(APP):c.2211+309_2211+310insC
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891412_25891413insG , CM000683.2:g.25891412_25891413insG GRCh38
NC_000021.8:g.27263724_27263725insG , CM000683.1:g.27263724_27263725insG GRCh37
NC_000021.7:g.26185595_26185596insG NCBI36
NG_007376.1:g.284408_284409insC
NG_007376.2:g.284716_284717insC

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.2211+309_2211+310insC MANE Select NP_000475.1:n.2211+309_2211+310insC
ENST00000346798.8:c.2211+309_2211+310insC MANE Select ENSP00000284981.4:n.2211+309_2211+310insC
NM_000484.3:c.2211+309_2211+310insC NP_000475.1:n.2211+309_2211+310insC
NM_001136016.3:c.2139+309_2139+310insC NP_001129488.1:n.2139+309_2139+310insC
NM_001136129.2:c.1818+309_1818+310insC NP_001129601.1:n.1818+309_1818+310insC
NM_001136129.3:c.1818+309_1818+310insC NP_001129601.1:n.1818+309_1818+310insC
NM_001136130.2:c.2043+309_2043+310insC NP_001129602.1:n.2043+309_2043+310insC
NM_001136130.3:c.2043+309_2043+310insC NP_001129602.1:n.2043+309_2043+310insC
NM_001136131.2:c.1881+309_1881+310insC NP_001129603.1:n.1881+309_1881+310insC
NM_001136131.3:c.1881+309_1881+310insC NP_001129603.1:n.1881+309_1881+310insC
NM_001204301.1:c.2157+309_2157+310insC NP_001191230.1:n.2157+309_2157+310insC
NM_001204301.2:c.2157+309_2157+310insC NP_001191230.1:n.2157+309_2157+310insC
NM_001204302.1:c.2100+309_2100+310insC NP_001191231.1:n.2100+309_2100+310insC
NM_001204302.2:c.2100+309_2100+310insC NP_001191231.1:n.2100+309_2100+310insC
NM_001204303.1:c.1932+309_1932+310insC NP_001191232.1:n.1932+309_1932+310insC
NM_001204303.2:c.1932+309_1932+310insC NP_001191232.1:n.1932+309_1932+310insC
NM_001385253.1:c.2043+309_2043+310insC NP_001372182.1:n.2043+309_2043+310insC
NM_201413.2:c.2154+309_2154+310insC NP_958816.1:n.2154+309_2154+310insC
NM_201413.3:c.2154+309_2154+310insC NP_958816.1:n.2154+309_2154+310insC
NM_201414.2:c.1986+309_1986+310insC NP_958817.1:n.1986+309_1986+310insC
NM_201414.3:c.1986+309_1986+310insC NP_958817.1:n.1986+309_1986+310insC
ENST00000346798.7:c.2211+309_2211+310insC ENSP00000284981.4:n.2211+309_2211+310insC
ENST00000348990.9:c.1986+309_1986+310insC ENSP00000345463.5:n.1986+309_1986+310insC
ENST00000354192.7:c.1818+309_1818+310insC ENSP00000346129.3:n.1818+309_1818+310insC
ENST00000357903.7:c.2154+309_2154+310insC ENSP00000350578.3:n.2154+309_2154+310insC
ENST00000358918.7:c.2157+309_2157+310insC ENSP00000351796.3:n.2157+309_2157+310insC
ENST00000359726.7:c.1881+309_1881+310insC ENSP00000352760.4:n.1881+309_1881+310insC
ENST00000439274.6:c.2043+309_2043+310insC ENSP00000398879.2:n.2043+309_2043+310insC
ENST00000440126.7:c.2139+309_2139+310insC ENSP00000387483.2:n.2139+309_2139+310insC
ENST00000464867.1:n.558+309_558+310insC
ENST00000707132.1:n.2178+309_2178+310insC
ENST00000707133.1:n.608+309_608+310insC
ENST00000707134.1:n.877+309_877+310insC