Canonical Allele Identifier: CA3050262987

Gene: APP

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891425_25891426del , CM000683.2:g.25891425_25891426del	GRCh38
NC_000021.8:g.27263737_27263738del , CM000683.1:g.27263737_27263738del	GRCh37
NC_000021.7:g.26185608_26185609del	NCBI36
NG_007376.1:g.284395_284396del
NG_007376.2:g.284703_284704del

Transcript Alleles

HGVS	Amino-acid Change
NM_000484.4:c.2211+296_2211+297del MANE Select	NP_000475.1:n.2211+296_2211+297del
ENST00000346798.8:c.2211+296_2211+297del MANE Select	ENSP00000284981.4:n.2211+296_2211+297del
NM_000484.3:c.2211+296_2211+297del	NP_000475.1:n.2211+296_2211+297del
NM_001136016.3:c.2139+296_2139+297del	NP_001129488.1:n.2139+296_2139+297del
NM_001136129.2:c.1818+296_1818+297del	NP_001129601.1:n.1818+296_1818+297del
NM_001136129.3:c.1818+296_1818+297del	NP_001129601.1:n.1818+296_1818+297del
NM_001136130.2:c.2043+296_2043+297del	NP_001129602.1:n.2043+296_2043+297del
NM_001136130.3:c.2043+296_2043+297del	NP_001129602.1:n.2043+296_2043+297del
NM_001136131.2:c.1881+296_1881+297del	NP_001129603.1:n.1881+296_1881+297del
NM_001136131.3:c.1881+296_1881+297del	NP_001129603.1:n.1881+296_1881+297del
NM_001204301.1:c.2157+296_2157+297del	NP_001191230.1:n.2157+296_2157+297del
NM_001204301.2:c.2157+296_2157+297del	NP_001191230.1:n.2157+296_2157+297del
NM_001204302.1:c.2100+296_2100+297del	NP_001191231.1:n.2100+296_2100+297del
NM_001204302.2:c.2100+296_2100+297del	NP_001191231.1:n.2100+296_2100+297del
NM_001204303.1:c.1932+296_1932+297del	NP_001191232.1:n.1932+296_1932+297del
NM_001204303.2:c.1932+296_1932+297del	NP_001191232.1:n.1932+296_1932+297del
NM_001385253.1:c.2043+296_2043+297del	NP_001372182.1:n.2043+296_2043+297del
NM_201413.2:c.2154+296_2154+297del	NP_958816.1:n.2154+296_2154+297del
NM_201413.3:c.2154+296_2154+297del	NP_958816.1:n.2154+296_2154+297del
NM_201414.2:c.1986+296_1986+297del	NP_958817.1:n.1986+296_1986+297del
NM_201414.3:c.1986+296_1986+297del	NP_958817.1:n.1986+296_1986+297del
ENST00000346798.7:c.2211+296_2211+297del	ENSP00000284981.4:n.2211+296_2211+297del
ENST00000348990.9:c.1986+296_1986+297del	ENSP00000345463.5:n.1986+296_1986+297del
ENST00000354192.7:c.1818+296_1818+297del	ENSP00000346129.3:n.1818+296_1818+297del
ENST00000357903.7:c.2154+296_2154+297del	ENSP00000350578.3:n.2154+296_2154+297del
ENST00000358918.7:c.2157+296_2157+297del	ENSP00000351796.3:n.2157+296_2157+297del
ENST00000359726.7:c.1881+296_1881+297del	ENSP00000352760.4:n.1881+296_1881+297del
ENST00000439274.6:c.2043+296_2043+297del	ENSP00000398879.2:n.2043+296_2043+297del
ENST00000440126.7:c.2139+296_2139+297del	ENSP00000387483.2:n.2139+296_2139+297del
ENST00000464867.1:n.558+296_558+297del
ENST00000707132.1:n.2178+296_2178+297del
ENST00000707133.1:n.608+296_608+297del
ENST00000707134.1:n.877+296_877+297del