Canonical Allele Identifier: CA319098214

Gene: APP

Linked Data

• dbSNP Id: rs563705682
• gnomAD v2: 21-27264689-C-CTAAT
• gnomAD v3: 21-25892377-C-CTAAT
• gnomAD v4: 21-25892377-C-CTAAT
• MyVariant Identifiers: chr21:g.27264689_27264690insTAAT (hg19) ; chr21:g.25892377_25892378insTAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25892379_25892382dup , CM000683.2:g.25892379_25892382dup	GRCh38
NC_000021.8:g.27264691_27264694dup , CM000683.1:g.27264691_27264694dup	GRCh37
NC_000021.7:g.26186562_26186565dup	NCBI36
NG_007376.1:g.283440_283443dup
NG_007376.2:g.283748_283751dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2032-513_2032-510dup
ENST00000707133.1:n.462-513_462-510dup
ENST00000707134.1:n.731-513_731-510dup
ENST00000346798.8:c.2065-513_2065-510dup MANE Select	ENSP00000284981.4:n.2065-513_2065-510dup
ENST00000346798.7:c.2065-513_2065-510dup	ENSP00000284981.4:n.2065-513_2065-510dup
ENST00000348990.9:c.1840-513_1840-510dup	ENSP00000345463.5:n.1840-513_1840-510dup
ENST00000354192.7:c.1672-513_1672-510dup	ENSP00000346129.3:n.1672-513_1672-510dup
ENST00000357903.7:c.2008-513_2008-510dup	ENSP00000350578.3:n.2008-513_2008-510dup
ENST00000358918.7:c.2011-513_2011-510dup	ENSP00000351796.3:n.2011-513_2011-510dup
ENST00000359726.7:c.1735-513_1735-510dup	ENSP00000352760.4:n.1735-513_1735-510dup
ENST00000439274.6:c.1897-513_1897-510dup	ENSP00000398879.2:n.1897-513_1897-510dup
ENST00000440126.7:c.1993-513_1993-510dup	ENSP00000387483.2:n.1993-513_1993-510dup
ENST00000464867.1:n.412-513_412-510dup
NM_000484.3:c.2065-513_2065-510dup	NP_000475.1:n.2065-513_2065-510dup
NM_001136016.3:c.1993-513_1993-510dup	NP_001129488.1:n.1993-513_1993-510dup
NM_001136129.2:c.1672-513_1672-510dup	NP_001129601.1:n.1672-513_1672-510dup
NM_001136130.2:c.1897-513_1897-510dup	NP_001129602.1:n.1897-513_1897-510dup
NM_001136131.2:c.1735-513_1735-510dup	NP_001129603.1:n.1735-513_1735-510dup
NM_001204301.1:c.2011-513_2011-510dup	NP_001191230.1:n.2011-513_2011-510dup
NM_001204302.1:c.1954-513_1954-510dup	NP_001191231.1:n.1954-513_1954-510dup
NM_001204303.1:c.1786-513_1786-510dup	NP_001191232.1:n.1786-513_1786-510dup
NM_201413.2:c.2008-513_2008-510dup	NP_958816.1:n.2008-513_2008-510dup
NM_201414.2:c.1840-513_1840-510dup	NP_958817.1:n.1840-513_1840-510dup
NM_000484.4:c.2065-513_2065-510dup MANE Select	NP_000475.1:n.2065-513_2065-510dup
NM_001136129.3:c.1672-513_1672-510dup	NP_001129601.1:n.1672-513_1672-510dup
NM_001136130.3:c.1897-513_1897-510dup	NP_001129602.1:n.1897-513_1897-510dup
NM_001204301.2:c.2011-513_2011-510dup	NP_001191230.1:n.2011-513_2011-510dup
NM_001204302.2:c.1954-513_1954-510dup	NP_001191231.1:n.1954-513_1954-510dup
NM_001204303.2:c.1786-513_1786-510dup	NP_001191232.1:n.1786-513_1786-510dup
NM_201413.3:c.2008-513_2008-510dup	NP_958816.1:n.2008-513_2008-510dup
NM_201414.3:c.1840-513_1840-510dup	NP_958817.1:n.1840-513_1840-510dup
NM_001136131.3:c.1735-513_1735-510dup	NP_001129603.1:n.1735-513_1735-510dup
NM_001385253.1:c.1897-513_1897-510dup	NP_001372182.1:n.1897-513_1897-510dup