Canonical Allele Identifier: CA2817564448

Gene: APP

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891814_25891815insACACCCAACA , CM000683.2:g.25891814_25891815insACACCCAACA	GRCh38
NC_000021.8:g.27264126_27264127insACACCCAACA , CM000683.1:g.27264126_27264127insACACCCAACA	GRCh37
NC_000021.7:g.26185997_26185998insACACCCAACA	NCBI36
NG_007376.1:g.284006_284007insTGTTGGGTGT
NG_007376.2:g.284314_284315insTGTTGGGTGT

Transcript Alleles

HGVS	Amino-acid Change
NM_000484.4:c.2118_2119insTGTTGGGTGT MANE Select	NP_000475.1:p.Val707CysfsTer?
ENST00000346798.8:c.2118_2119insTGTTGGGTGT MANE Select	ENSP00000284981.4:p.Val707CysfsTer?
NM_000484.3:c.2118_2119insTGTTGGGTGT	NP_000475.1:p.Val707CysfsTer?
NM_001136016.3:c.2046_2047insTGTTGGGTGT	NP_001129488.1:p.Val683CysfsTer?
NM_001136129.2:c.1725_1726insTGTTGGGTGT	NP_001129601.1:p.Val576CysfsTer?
NM_001136129.3:c.1725_1726insTGTTGGGTGT	NP_001129601.1:p.Val576CysfsTer?
NM_001136130.2:c.1950_1951insTGTTGGGTGT	NP_001129602.1:p.Val651CysfsTer?
NM_001136130.3:c.1950_1951insTGTTGGGTGT	NP_001129602.1:p.Val651CysfsTer?
NM_001136131.2:c.1788_1789insTGTTGGGTGT	NP_001129603.1:p.Val597CysfsTer?
NM_001136131.3:c.1788_1789insTGTTGGGTGT	NP_001129603.1:p.Val597CysfsTer?
NM_001204301.1:c.2064_2065insTGTTGGGTGT	NP_001191230.1:p.Val689CysfsTer?
NM_001204301.2:c.2064_2065insTGTTGGGTGT	NP_001191230.1:p.Val689CysfsTer?
NM_001204302.1:c.2007_2008insTGTTGGGTGT	NP_001191231.1:p.Val670CysfsTer?
NM_001204302.2:c.2007_2008insTGTTGGGTGT	NP_001191231.1:p.Val670CysfsTer?
NM_001204303.1:c.1839_1840insTGTTGGGTGT	NP_001191232.1:p.Val614CysfsTer?
NM_001204303.2:c.1839_1840insTGTTGGGTGT	NP_001191232.1:p.Val614CysfsTer?
NM_001385253.1:c.1950_1951insTGTTGGGTGT	NP_001372182.1:p.Val651CysfsTer?
NM_201413.2:c.2061_2062insTGTTGGGTGT	NP_958816.1:p.Val688CysfsTer?
NM_201413.3:c.2061_2062insTGTTGGGTGT	NP_958816.1:p.Val688CysfsTer?
NM_201414.2:c.1893_1894insTGTTGGGTGT	NP_958817.1:p.Val632CysfsTer?
NM_201414.3:c.1893_1894insTGTTGGGTGT	NP_958817.1:p.Val632CysfsTer?
ENST00000346798.7:c.2118_2119insTGTTGGGTGT	ENSP00000284981.4:p.Val707CysfsTer?
ENST00000348990.9:c.1893_1894insTGTTGGGTGT	ENSP00000345463.5:p.Val632CysfsTer?
ENST00000354192.7:c.1725_1726insTGTTGGGTGT	ENSP00000346129.3:p.Val576CysfsTer?
ENST00000357903.7:c.2061_2062insTGTTGGGTGT	ENSP00000350578.3:p.Val688CysfsTer?
ENST00000358918.7:c.2064_2065insTGTTGGGTGT	ENSP00000351796.3:p.Val689CysfsTer?
ENST00000359726.7:c.1788_1789insTGTTGGGTGT	ENSP00000352760.4:p.Val597CysfsTer?
ENST00000439274.6:c.1950_1951insTGTTGGGTGT	ENSP00000398879.2:p.Val651CysfsTer?
ENST00000440126.7:c.2046_2047insTGTTGGGTGT	ENSP00000387483.2:p.Val683CysfsTer?
ENST00000464867.1:n.465_466insTGTTGGGTGT
ENST00000707132.1:n.2085_2086insTGTTGGGTGT
ENST00000707133.1:n.515_516insTGTTGGGTGT
ENST00000707134.1:n.784_785insTGTTGGGTGT