Canonical Allele Identifier: CA2383551482
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891505_25891508delinsTAAC , CM000683.2:g.25891505_25891508delinsTAAC GRCh38
NC_000021.8:g.27263817_27263820delinsTAAC , CM000683.1:g.27263817_27263820delinsTAAC GRCh37
NC_000021.7:g.26185688_26185691delinsTAAC NCBI36
NG_007376.1:g.284313_284316delinsGTTA
NG_007376.2:g.284621_284624delinsGTTA

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2178+214_2178+217delinsGTTA
ENST00000707133.1:n.608+214_608+217delinsGTTA
ENST00000707134.1:n.877+214_877+217delinsGTTA
ENST00000346798.8:c.2211+214_2211+217delinsGTTA MANE Select ENSP00000284981.4:n.2211+214_2211+217deli...
ENST00000346798.7:c.2211+214_2211+217delinsGTTA ENSP00000284981.4:n.2211+214_2211+217deli...
ENST00000348990.9:c.1986+214_1986+217delinsGTTA ENSP00000345463.5:n.1986+214_1986+217deli...
ENST00000354192.7:c.1818+214_1818+217delinsGTTA ENSP00000346129.3:n.1818+214_1818+217deli...
ENST00000357903.7:c.2154+214_2154+217delinsGTTA ENSP00000350578.3:n.2154+214_2154+217deli...
ENST00000358918.7:c.2157+214_2157+217delinsGTTA ENSP00000351796.3:n.2157+214_2157+217deli...
ENST00000359726.7:c.1881+214_1881+217delinsGTTA ENSP00000352760.4:n.1881+214_1881+217deli...
ENST00000439274.6:c.2043+214_2043+217delinsGTTA ENSP00000398879.2:n.2043+214_2043+217deli...
ENST00000440126.7:c.2139+214_2139+217delinsGTTA ENSP00000387483.2:n.2139+214_2139+217deli...
ENST00000464867.1:n.558+214_558+217delinsGTTA
NM_000484.3:c.2211+214_2211+217delinsGTTA NP_000475.1:n.2211+214_2211+217delinsGTTA...
NM_001136016.3:c.2139+214_2139+217delinsGTTA NP_001129488.1:n.2139+214_2139+217delinsG...
NM_001136129.2:c.1818+214_1818+217delinsGTTA NP_001129601.1:n.1818+214_1818+217delinsG...
NM_001136130.2:c.2043+214_2043+217delinsGTTA NP_001129602.1:n.2043+214_2043+217delinsG...
NM_001136131.2:c.1881+214_1881+217delinsGTTA NP_001129603.1:n.1881+214_1881+217delinsG...
NM_001204301.1:c.2157+214_2157+217delinsGTTA NP_001191230.1:n.2157+214_2157+217delinsG...
NM_001204302.1:c.2100+214_2100+217delinsGTTA NP_001191231.1:n.2100+214_2100+217delinsG...
NM_001204303.1:c.1932+214_1932+217delinsGTTA NP_001191232.1:n.1932+214_1932+217delinsG...
NM_201413.2:c.2154+214_2154+217delinsGTTA NP_958816.1:n.2154+214_2154+217delinsGTTA...
NM_201414.2:c.1986+214_1986+217delinsGTTA NP_958817.1:n.1986+214_1986+217delinsGTTA...
NM_000484.4:c.2211+214_2211+217delinsGTTA MANE Select NP_000475.1:n.2211+214_2211+217delinsGTTA...
NM_001136129.3:c.1818+214_1818+217delinsGTTA NP_001129601.1:n.1818+214_1818+217delinsG...
NM_001136130.3:c.2043+214_2043+217delinsGTTA NP_001129602.1:n.2043+214_2043+217delinsG...
NM_001204301.2:c.2157+214_2157+217delinsGTTA NP_001191230.1:n.2157+214_2157+217delinsG...
NM_001204302.2:c.2100+214_2100+217delinsGTTA NP_001191231.1:n.2100+214_2100+217delinsG...
NM_001204303.2:c.1932+214_1932+217delinsGTTA NP_001191232.1:n.1932+214_1932+217delinsG...
NM_201413.3:c.2154+214_2154+217delinsGTTA NP_958816.1:n.2154+214_2154+217delinsGTTA...
NM_201414.3:c.1986+214_1986+217delinsGTTA NP_958817.1:n.1986+214_1986+217delinsGTTA...
NM_001136131.3:c.1881+214_1881+217delinsGTTA NP_001129603.1:n.1881+214_1881+217delinsG...
NM_001385253.1:c.2043+214_2043+217delinsGTTA NP_001372182.1:n.2043+214_2043+217delinsG...