Canonical Allele Identifier: CA2383551444
Community Standard Title: NM_000484.4(APP):c.2211+288_2211+291delinsGATT
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891431_25891434delinsAATC , CM000683.2:g.25891431_25891434delinsAATC GRCh38
NC_000021.8:g.27263743_27263746delinsAATC , CM000683.1:g.27263743_27263746delinsAATC GRCh37
NC_000021.7:g.26185614_26185617delinsAATC NCBI36
NG_007376.1:g.284387_284390delinsGATT
NG_007376.2:g.284695_284698delinsGATT

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.2211+288_2211+291delinsGATT MANE Select NP_000475.1:n.2211+288_2211+291delinsGATT
ENST00000346798.8:c.2211+288_2211+291delinsGATT MANE Select ENSP00000284981.4:n.2211+288_2211+291delinsGATT
NM_000484.3:c.2211+288_2211+291delinsGATT NP_000475.1:n.2211+288_2211+291delinsGATT
NM_001136016.3:c.2139+288_2139+291delinsGATT NP_001129488.1:n.2139+288_2139+291delinsGATT
NM_001136129.2:c.1818+288_1818+291delinsGATT NP_001129601.1:n.1818+288_1818+291delinsGATT
NM_001136129.3:c.1818+288_1818+291delinsGATT NP_001129601.1:n.1818+288_1818+291delinsGATT
NM_001136130.2:c.2043+288_2043+291delinsGATT NP_001129602.1:n.2043+288_2043+291delinsGATT
NM_001136130.3:c.2043+288_2043+291delinsGATT NP_001129602.1:n.2043+288_2043+291delinsGATT
NM_001136131.2:c.1881+288_1881+291delinsGATT NP_001129603.1:n.1881+288_1881+291delinsGATT
NM_001136131.3:c.1881+288_1881+291delinsGATT NP_001129603.1:n.1881+288_1881+291delinsGATT
NM_001204301.1:c.2157+288_2157+291delinsGATT NP_001191230.1:n.2157+288_2157+291delinsGATT
NM_001204301.2:c.2157+288_2157+291delinsGATT NP_001191230.1:n.2157+288_2157+291delinsGATT
NM_001204302.1:c.2100+288_2100+291delinsGATT NP_001191231.1:n.2100+288_2100+291delinsGATT
NM_001204302.2:c.2100+288_2100+291delinsGATT NP_001191231.1:n.2100+288_2100+291delinsGATT
NM_001204303.1:c.1932+288_1932+291delinsGATT NP_001191232.1:n.1932+288_1932+291delinsGATT
NM_001204303.2:c.1932+288_1932+291delinsGATT NP_001191232.1:n.1932+288_1932+291delinsGATT
NM_001385253.1:c.2043+288_2043+291delinsGATT NP_001372182.1:n.2043+288_2043+291delinsGATT
NM_201413.2:c.2154+288_2154+291delinsGATT NP_958816.1:n.2154+288_2154+291delinsGATT
NM_201413.3:c.2154+288_2154+291delinsGATT NP_958816.1:n.2154+288_2154+291delinsGATT
NM_201414.2:c.1986+288_1986+291delinsGATT NP_958817.1:n.1986+288_1986+291delinsGATT
NM_201414.3:c.1986+288_1986+291delinsGATT NP_958817.1:n.1986+288_1986+291delinsGATT
ENST00000346798.7:c.2211+288_2211+291delinsGATT ENSP00000284981.4:n.2211+288_2211+291delinsGATT
ENST00000348990.9:c.1986+288_1986+291delinsGATT ENSP00000345463.5:n.1986+288_1986+291delinsGATT
ENST00000354192.7:c.1818+288_1818+291delinsGATT ENSP00000346129.3:n.1818+288_1818+291delinsGATT
ENST00000357903.7:c.2154+288_2154+291delinsGATT ENSP00000350578.3:n.2154+288_2154+291delinsGATT
ENST00000358918.7:c.2157+288_2157+291delinsGATT ENSP00000351796.3:n.2157+288_2157+291delinsGATT
ENST00000359726.7:c.1881+288_1881+291delinsGATT ENSP00000352760.4:n.1881+288_1881+291delinsGATT
ENST00000439274.6:c.2043+288_2043+291delinsGATT ENSP00000398879.2:n.2043+288_2043+291delinsGATT
ENST00000440126.7:c.2139+288_2139+291delinsGATT ENSP00000387483.2:n.2139+288_2139+291delinsGATT
ENST00000464867.1:n.558+288_558+291delinsGATT
ENST00000707132.1:n.2178+288_2178+291delinsGATT
ENST00000707133.1:n.608+288_608+291delinsGATT
ENST00000707134.1:n.877+288_877+291delinsGATT