Canonical Allele Identifier: CA3243789328
Community Standard Title: NM_000484.4(APP):c.2211+303_2211+304insC
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891418_25891419insG , CM000683.2:g.25891418_25891419insG GRCh38
NC_000021.8:g.27263730_27263731insG , CM000683.1:g.27263730_27263731insG GRCh37
NC_000021.7:g.26185601_26185602insG NCBI36
NG_007376.1:g.284402_284403insC
NG_007376.2:g.284710_284711insC

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.2211+303_2211+304insC MANE Select NP_000475.1:n.2211+303_2211+304insC
ENST00000346798.8:c.2211+303_2211+304insC MANE Select ENSP00000284981.4:n.2211+303_2211+304insC
NM_000484.3:c.2211+303_2211+304insC NP_000475.1:n.2211+303_2211+304insC
NM_001136016.3:c.2139+303_2139+304insC NP_001129488.1:n.2139+303_2139+304insC
NM_001136129.2:c.1818+303_1818+304insC NP_001129601.1:n.1818+303_1818+304insC
NM_001136129.3:c.1818+303_1818+304insC NP_001129601.1:n.1818+303_1818+304insC
NM_001136130.2:c.2043+303_2043+304insC NP_001129602.1:n.2043+303_2043+304insC
NM_001136130.3:c.2043+303_2043+304insC NP_001129602.1:n.2043+303_2043+304insC
NM_001136131.2:c.1881+303_1881+304insC NP_001129603.1:n.1881+303_1881+304insC
NM_001136131.3:c.1881+303_1881+304insC NP_001129603.1:n.1881+303_1881+304insC
NM_001204301.1:c.2157+303_2157+304insC NP_001191230.1:n.2157+303_2157+304insC
NM_001204301.2:c.2157+303_2157+304insC NP_001191230.1:n.2157+303_2157+304insC
NM_001204302.1:c.2100+303_2100+304insC NP_001191231.1:n.2100+303_2100+304insC
NM_001204302.2:c.2100+303_2100+304insC NP_001191231.1:n.2100+303_2100+304insC
NM_001204303.1:c.1932+303_1932+304insC NP_001191232.1:n.1932+303_1932+304insC
NM_001204303.2:c.1932+303_1932+304insC NP_001191232.1:n.1932+303_1932+304insC
NM_001385253.1:c.2043+303_2043+304insC NP_001372182.1:n.2043+303_2043+304insC
NM_201413.2:c.2154+303_2154+304insC NP_958816.1:n.2154+303_2154+304insC
NM_201413.3:c.2154+303_2154+304insC NP_958816.1:n.2154+303_2154+304insC
NM_201414.2:c.1986+303_1986+304insC NP_958817.1:n.1986+303_1986+304insC
NM_201414.3:c.1986+303_1986+304insC NP_958817.1:n.1986+303_1986+304insC
ENST00000346798.7:c.2211+303_2211+304insC ENSP00000284981.4:n.2211+303_2211+304insC
ENST00000348990.9:c.1986+303_1986+304insC ENSP00000345463.5:n.1986+303_1986+304insC
ENST00000354192.7:c.1818+303_1818+304insC ENSP00000346129.3:n.1818+303_1818+304insC
ENST00000357903.7:c.2154+303_2154+304insC ENSP00000350578.3:n.2154+303_2154+304insC
ENST00000358918.7:c.2157+303_2157+304insC ENSP00000351796.3:n.2157+303_2157+304insC
ENST00000359726.7:c.1881+303_1881+304insC ENSP00000352760.4:n.1881+303_1881+304insC
ENST00000439274.6:c.2043+303_2043+304insC ENSP00000398879.2:n.2043+303_2043+304insC
ENST00000440126.7:c.2139+303_2139+304insC ENSP00000387483.2:n.2139+303_2139+304insC
ENST00000464867.1:n.558+303_558+304insC
ENST00000707132.1:n.2178+303_2178+304insC
ENST00000707133.1:n.608+303_608+304insC
ENST00000707134.1:n.877+303_877+304insC