Canonical Allele Identifier: CA2383551486
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891508_25891509delinsCA , CM000683.2:g.25891508_25891509delinsCA GRCh38
NC_000021.8:g.27263820_27263821delinsCA , CM000683.1:g.27263820_27263821delinsCA GRCh37
NC_000021.7:g.26185691_26185692delinsCA NCBI36
NG_007376.1:g.284312_284313delinsTG
NG_007376.2:g.284620_284621delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2178+213_2178+214delinsTG
ENST00000707133.1:n.608+213_608+214delinsTG
ENST00000707134.1:n.877+213_877+214delinsTG
ENST00000346798.8:c.2211+213_2211+214delinsTG MANE Select ENSP00000284981.4:n.2211+213_2211+214deli...
ENST00000346798.7:c.2211+213_2211+214delinsTG ENSP00000284981.4:n.2211+213_2211+214deli...
ENST00000348990.9:c.1986+213_1986+214delinsTG ENSP00000345463.5:n.1986+213_1986+214deli...
ENST00000354192.7:c.1818+213_1818+214delinsTG ENSP00000346129.3:n.1818+213_1818+214deli...
ENST00000357903.7:c.2154+213_2154+214delinsTG ENSP00000350578.3:n.2154+213_2154+214deli...
ENST00000358918.7:c.2157+213_2157+214delinsTG ENSP00000351796.3:n.2157+213_2157+214deli...
ENST00000359726.7:c.1881+213_1881+214delinsTG ENSP00000352760.4:n.1881+213_1881+214deli...
ENST00000439274.6:c.2043+213_2043+214delinsTG ENSP00000398879.2:n.2043+213_2043+214deli...
ENST00000440126.7:c.2139+213_2139+214delinsTG ENSP00000387483.2:n.2139+213_2139+214deli...
ENST00000464867.1:n.558+213_558+214delinsTG
NM_000484.3:c.2211+213_2211+214delinsTG NP_000475.1:n.2211+213_2211+214delinsTG
NM_001136016.3:c.2139+213_2139+214delinsTG NP_001129488.1:n.2139+213_2139+214delinsT...
NM_001136129.2:c.1818+213_1818+214delinsTG NP_001129601.1:n.1818+213_1818+214delinsT...
NM_001136130.2:c.2043+213_2043+214delinsTG NP_001129602.1:n.2043+213_2043+214delinsT...
NM_001136131.2:c.1881+213_1881+214delinsTG NP_001129603.1:n.1881+213_1881+214delinsT...
NM_001204301.1:c.2157+213_2157+214delinsTG NP_001191230.1:n.2157+213_2157+214delinsT...
NM_001204302.1:c.2100+213_2100+214delinsTG NP_001191231.1:n.2100+213_2100+214delinsT...
NM_001204303.1:c.1932+213_1932+214delinsTG NP_001191232.1:n.1932+213_1932+214delinsT...
NM_201413.2:c.2154+213_2154+214delinsTG NP_958816.1:n.2154+213_2154+214delinsTG
NM_201414.2:c.1986+213_1986+214delinsTG NP_958817.1:n.1986+213_1986+214delinsTG
NM_000484.4:c.2211+213_2211+214delinsTG MANE Select NP_000475.1:n.2211+213_2211+214delinsTG
NM_001136129.3:c.1818+213_1818+214delinsTG NP_001129601.1:n.1818+213_1818+214delinsT...
NM_001136130.3:c.2043+213_2043+214delinsTG NP_001129602.1:n.2043+213_2043+214delinsT...
NM_001204301.2:c.2157+213_2157+214delinsTG NP_001191230.1:n.2157+213_2157+214delinsT...
NM_001204302.2:c.2100+213_2100+214delinsTG NP_001191231.1:n.2100+213_2100+214delinsT...
NM_001204303.2:c.1932+213_1932+214delinsTG NP_001191232.1:n.1932+213_1932+214delinsT...
NM_201413.3:c.2154+213_2154+214delinsTG NP_958816.1:n.2154+213_2154+214delinsTG
NM_201414.3:c.1986+213_1986+214delinsTG NP_958817.1:n.1986+213_1986+214delinsTG
NM_001136131.3:c.1881+213_1881+214delinsTG NP_001129603.1:n.1881+213_1881+214delinsT...
NM_001385253.1:c.2043+213_2043+214delinsTG NP_001372182.1:n.2043+213_2043+214delinsT...