Canonical Allele Identifier: CA2573157339

Gene: APP

Linked Data

• ClinVar Variation Id: 1457308
• ClinVar RCV Id: RCV001947096
• dbSNP Id: rs2146237965

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891787_25891788delinsCA , CM000683.2:g.25891787_25891788delinsCA	GRCh38
NC_000021.8:g.27264099_27264100delinsCA , CM000683.1:g.27264099_27264100delinsCA	GRCh37
NC_000021.7:g.26185970_26185971delinsCA	NCBI36
NG_007376.1:g.284033_284034delinsTG
NG_007376.2:g.284341_284342delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2112_2113delinsTG
ENST00000707133.1:n.542_543delinsTG
ENST00000707134.1:n.811_812delinsTG
ENST00000346798.8:c.2145_2146delinsTG MANE Select	ENSP00000284981.4:p.Ile716Val
ENST00000346798.7:c.2145_2146delinsTG	ENSP00000284981.4:p.Ile716Val
ENST00000348990.9:c.1920_1921delinsTG	ENSP00000345463.5:p.Ile641Val
ENST00000354192.7:c.1752_1753delinsTG	ENSP00000346129.3:p.Ile585Val
ENST00000357903.7:c.2088_2089delinsTG	ENSP00000350578.3:p.Ile697Val
ENST00000358918.7:c.2091_2092delinsTG	ENSP00000351796.3:p.Ile698Val
ENST00000359726.7:c.1815_1816delinsTG	ENSP00000352760.4:p.Ile606Val
ENST00000439274.6:c.1977_1978delinsTG	ENSP00000398879.2:p.Ile660Val
ENST00000440126.7:c.2073_2074delinsTG	ENSP00000387483.2:p.Ile692Val
ENST00000464867.1:n.492_493delinsTG
NM_000484.3:c.2145_2146delinsTG	NP_000475.1:p.Ile716Val
NM_001136016.3:c.2073_2074delinsTG	NP_001129488.1:p.Ile692Val
NM_001136129.2:c.1752_1753delinsTG	NP_001129601.1:p.Ile585Val
NM_001136130.2:c.1977_1978delinsTG	NP_001129602.1:p.Ile660Val
NM_001136131.2:c.1815_1816delinsTG	NP_001129603.1:p.Ile606Val
NM_001204301.1:c.2091_2092delinsTG	NP_001191230.1:p.Ile698Val
NM_001204302.1:c.2034_2035delinsTG	NP_001191231.1:p.Ile679Val
NM_001204303.1:c.1866_1867delinsTG	NP_001191232.1:p.Ile623Val
NM_201413.2:c.2088_2089delinsTG	NP_958816.1:p.Ile697Val
NM_201414.2:c.1920_1921delinsTG	NP_958817.1:p.Ile641Val
NM_000484.4:c.2145_2146delinsTG MANE Select	NP_000475.1:p.Ile716Val
NM_001136129.3:c.1752_1753delinsTG	NP_001129601.1:p.Ile585Val
NM_001136130.3:c.1977_1978delinsTG	NP_001129602.1:p.Ile660Val
NM_001204301.2:c.2091_2092delinsTG	NP_001191230.1:p.Ile698Val
NM_001204302.2:c.2034_2035delinsTG	NP_001191231.1:p.Ile679Val
NM_001204303.2:c.1866_1867delinsTG	NP_001191232.1:p.Ile623Val
NM_201413.3:c.2088_2089delinsTG	NP_958816.1:p.Ile697Val
NM_201414.3:c.1920_1921delinsTG	NP_958817.1:p.Ile641Val
NM_001136131.3:c.1815_1816delinsTG	NP_001129603.1:p.Ile606Val
NM_001385253.1:c.1977_1978delinsTG	NP_001372182.1:p.Ile660Val