Canonical Allele Identifier: CA2383551488
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891509_25891511delinsAAC , CM000683.2:g.25891509_25891511delinsAAC GRCh38
NC_000021.8:g.27263821_27263823delinsAAC , CM000683.1:g.27263821_27263823delinsAAC GRCh37
NC_000021.7:g.26185692_26185694delinsAAC NCBI36
NG_007376.1:g.284310_284312delinsGTT
NG_007376.2:g.284618_284620delinsGTT

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2178+211_2178+213delinsGTT
ENST00000707133.1:n.608+211_608+213delinsGTT
ENST00000707134.1:n.877+211_877+213delinsGTT
ENST00000346798.8:c.2211+211_2211+213delinsGTT MANE Select ENSP00000284981.4:n.2211+211_2211+213deli...
ENST00000346798.7:c.2211+211_2211+213delinsGTT ENSP00000284981.4:n.2211+211_2211+213deli...
ENST00000348990.9:c.1986+211_1986+213delinsGTT ENSP00000345463.5:n.1986+211_1986+213deli...
ENST00000354192.7:c.1818+211_1818+213delinsGTT ENSP00000346129.3:n.1818+211_1818+213deli...
ENST00000357903.7:c.2154+211_2154+213delinsGTT ENSP00000350578.3:n.2154+211_2154+213deli...
ENST00000358918.7:c.2157+211_2157+213delinsGTT ENSP00000351796.3:n.2157+211_2157+213deli...
ENST00000359726.7:c.1881+211_1881+213delinsGTT ENSP00000352760.4:n.1881+211_1881+213deli...
ENST00000439274.6:c.2043+211_2043+213delinsGTT ENSP00000398879.2:n.2043+211_2043+213deli...
ENST00000440126.7:c.2139+211_2139+213delinsGTT ENSP00000387483.2:n.2139+211_2139+213deli...
ENST00000464867.1:n.558+211_558+213delinsGTT
NM_000484.3:c.2211+211_2211+213delinsGTT NP_000475.1:n.2211+211_2211+213delinsGTT
NM_001136016.3:c.2139+211_2139+213delinsGTT NP_001129488.1:n.2139+211_2139+213delinsG...
NM_001136129.2:c.1818+211_1818+213delinsGTT NP_001129601.1:n.1818+211_1818+213delinsG...
NM_001136130.2:c.2043+211_2043+213delinsGTT NP_001129602.1:n.2043+211_2043+213delinsG...
NM_001136131.2:c.1881+211_1881+213delinsGTT NP_001129603.1:n.1881+211_1881+213delinsG...
NM_001204301.1:c.2157+211_2157+213delinsGTT NP_001191230.1:n.2157+211_2157+213delinsG...
NM_001204302.1:c.2100+211_2100+213delinsGTT NP_001191231.1:n.2100+211_2100+213delinsG...
NM_001204303.1:c.1932+211_1932+213delinsGTT NP_001191232.1:n.1932+211_1932+213delinsG...
NM_201413.2:c.2154+211_2154+213delinsGTT NP_958816.1:n.2154+211_2154+213delinsGTT
NM_201414.2:c.1986+211_1986+213delinsGTT NP_958817.1:n.1986+211_1986+213delinsGTT
NM_000484.4:c.2211+211_2211+213delinsGTT MANE Select NP_000475.1:n.2211+211_2211+213delinsGTT
NM_001136129.3:c.1818+211_1818+213delinsGTT NP_001129601.1:n.1818+211_1818+213delinsG...
NM_001136130.3:c.2043+211_2043+213delinsGTT NP_001129602.1:n.2043+211_2043+213delinsG...
NM_001204301.2:c.2157+211_2157+213delinsGTT NP_001191230.1:n.2157+211_2157+213delinsG...
NM_001204302.2:c.2100+211_2100+213delinsGTT NP_001191231.1:n.2100+211_2100+213delinsG...
NM_001204303.2:c.1932+211_1932+213delinsGTT NP_001191232.1:n.1932+211_1932+213delinsG...
NM_201413.3:c.2154+211_2154+213delinsGTT NP_958816.1:n.2154+211_2154+213delinsGTT
NM_201414.3:c.1986+211_1986+213delinsGTT NP_958817.1:n.1986+211_1986+213delinsGTT
NM_001136131.3:c.1881+211_1881+213delinsGTT NP_001129603.1:n.1881+211_1881+213delinsG...
NM_001385253.1:c.2043+211_2043+213delinsGTT NP_001372182.1:n.2043+211_2043+213delinsG...