Canonical Allele Identifier: CA2383551404
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891334_25891337delinsGTTT , CM000683.2:g.25891334_25891337delinsGTTT GRCh38
NC_000021.8:g.27263646_27263649delinsGTTT , CM000683.1:g.27263646_27263649delinsGTTT GRCh37
NC_000021.7:g.26185517_26185520delinsGTTT NCBI36
NG_007376.1:g.284484_284487delinsAAAC
NG_007376.2:g.284792_284795delinsAAAC

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2178+385_2178+388delinsAAAC
ENST00000707133.1:n.608+385_608+388delinsAAAC
ENST00000707134.1:n.877+385_877+388delinsAAAC
ENST00000346798.8:c.2211+385_2211+388delinsAAAC MANE Select ENSP00000284981.4:n.2211+385_2211+388delinsAAAC
ENST00000346798.7:c.2211+385_2211+388delinsAAAC ENSP00000284981.4:n.2211+385_2211+388delinsAAAC
ENST00000348990.9:c.1986+385_1986+388delinsAAAC ENSP00000345463.5:n.1986+385_1986+388delinsAAAC
ENST00000354192.7:c.1818+385_1818+388delinsAAAC ENSP00000346129.3:n.1818+385_1818+388delinsAAAC
ENST00000357903.7:c.2154+385_2154+388delinsAAAC ENSP00000350578.3:n.2154+385_2154+388delinsAAAC
ENST00000358918.7:c.2157+385_2157+388delinsAAAC ENSP00000351796.3:n.2157+385_2157+388delinsAAAC
ENST00000359726.7:c.1881+385_1881+388delinsAAAC ENSP00000352760.4:n.1881+385_1881+388delinsAAAC
ENST00000439274.6:c.2043+385_2043+388delinsAAAC ENSP00000398879.2:n.2043+385_2043+388delinsAAAC
ENST00000440126.7:c.2139+385_2139+388delinsAAAC ENSP00000387483.2:n.2139+385_2139+388delinsAAAC
ENST00000464867.1:n.558+385_558+388delinsAAAC
NM_000484.3:c.2211+385_2211+388delinsAAAC NP_000475.1:n.2211+385_2211+388delinsAAAC
NM_001136016.3:c.2139+385_2139+388delinsAAAC NP_001129488.1:n.2139+385_2139+388delinsAAAC
NM_001136129.2:c.1818+385_1818+388delinsAAAC NP_001129601.1:n.1818+385_1818+388delinsAAAC
NM_001136130.2:c.2043+385_2043+388delinsAAAC NP_001129602.1:n.2043+385_2043+388delinsAAAC
NM_001136131.2:c.1881+385_1881+388delinsAAAC NP_001129603.1:n.1881+385_1881+388delinsAAAC
NM_001204301.1:c.2157+385_2157+388delinsAAAC NP_001191230.1:n.2157+385_2157+388delinsAAAC
NM_001204302.1:c.2100+385_2100+388delinsAAAC NP_001191231.1:n.2100+385_2100+388delinsAAAC
NM_001204303.1:c.1932+385_1932+388delinsAAAC NP_001191232.1:n.1932+385_1932+388delinsAAAC
NM_201413.2:c.2154+385_2154+388delinsAAAC NP_958816.1:n.2154+385_2154+388delinsAAAC
NM_201414.2:c.1986+385_1986+388delinsAAAC NP_958817.1:n.1986+385_1986+388delinsAAAC
NM_000484.4:c.2211+385_2211+388delinsAAAC MANE Select NP_000475.1:n.2211+385_2211+388delinsAAAC
NM_001136129.3:c.1818+385_1818+388delinsAAAC NP_001129601.1:n.1818+385_1818+388delinsAAAC
NM_001136130.3:c.2043+385_2043+388delinsAAAC NP_001129602.1:n.2043+385_2043+388delinsAAAC
NM_001204301.2:c.2157+385_2157+388delinsAAAC NP_001191230.1:n.2157+385_2157+388delinsAAAC
NM_001204302.2:c.2100+385_2100+388delinsAAAC NP_001191231.1:n.2100+385_2100+388delinsAAAC
NM_001204303.2:c.1932+385_1932+388delinsAAAC NP_001191232.1:n.1932+385_1932+388delinsAAAC
NM_201413.3:c.2154+385_2154+388delinsAAAC NP_958816.1:n.2154+385_2154+388delinsAAAC
NM_201414.3:c.1986+385_1986+388delinsAAAC NP_958817.1:n.1986+385_1986+388delinsAAAC
NM_001136131.3:c.1881+385_1881+388delinsAAAC NP_001129603.1:n.1881+385_1881+388delinsAAAC
NM_001385253.1:c.2043+385_2043+388delinsAAAC NP_001372182.1:n.2043+385_2043+388delinsAAAC