Canonical Allele Identifier: CA637163687

Gene: APP

Linked Data

• dbSNP Id: rs1461244672
• gnomAD v2: 21-27269905-C-CA
• gnomAD v4: 21-25897593-C-CA
• MyVariant Identifiers: chr21:g.27269905_27269906insA (hg19) ; chr21:g.25897593_25897594insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897594dup , CM000683.2:g.25897594dup	GRCh38
NC_000021.8:g.27269906dup , CM000683.1:g.27269906dup	GRCh37
NC_000021.7:g.26191777dup	NCBI36
NG_007376.1:g.278227dup
NG_007376.2:g.278535dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2010dup
ENST00000707133.1:n.440dup
ENST00000707134.1:n.709dup
ENST00000346798.8:c.2043dup MANE Select	ENSP00000284981.4:p.Glu682Ter
ENST00000346798.7:c.2043dup	ENSP00000284981.4:p.Glu682Ter
ENST00000348990.9:c.1818dup	ENSP00000345463.5:p.Glu607Ter
ENST00000354192.7:c.1650dup	ENSP00000346129.3:p.Glu551Ter
ENST00000357903.7:c.1986dup	ENSP00000350578.3:p.Glu663Ter
ENST00000358918.7:c.1989dup	ENSP00000351796.3:p.Glu664Ter
ENST00000359726.7:c.1713dup	ENSP00000352760.4:p.Glu572Ter
ENST00000439274.6:c.1875dup	ENSP00000398879.2:p.Glu626Ter
ENST00000440126.7:c.1971dup	ENSP00000387483.2:p.Glu658Ter
ENST00000464867.1:n.390dup
NM_000484.3:c.2043dup	NP_000475.1:p.Glu682Ter
NM_001136016.3:c.1971dup	NP_001129488.1:p.Glu658Ter
NM_001136129.2:c.1650dup	NP_001129601.1:p.Glu551Ter
NM_001136130.2:c.1875dup	NP_001129602.1:p.Glu626Ter
NM_001136131.2:c.1713dup	NP_001129603.1:p.Glu572Ter
NM_001204301.1:c.1989dup	NP_001191230.1:p.Glu664Ter
NM_001204302.1:c.1932dup	NP_001191231.1:p.Glu645Ter
NM_001204303.1:c.1764dup	NP_001191232.1:p.Glu589Ter
NM_201413.2:c.1986dup	NP_958816.1:p.Glu663Ter
NM_201414.2:c.1818dup	NP_958817.1:p.Glu607Ter
NM_000484.4:c.2043dup MANE Select	NP_000475.1:p.Glu682Ter
NM_001136129.3:c.1650dup	NP_001129601.1:p.Glu551Ter
NM_001136130.3:c.1875dup	NP_001129602.1:p.Glu626Ter
NM_001204301.2:c.1989dup	NP_001191230.1:p.Glu664Ter
NM_001204302.2:c.1932dup	NP_001191231.1:p.Glu645Ter
NM_001204303.2:c.1764dup	NP_001191232.1:p.Glu589Ter
NM_201413.3:c.1986dup	NP_958816.1:p.Glu663Ter
NM_201414.3:c.1818dup	NP_958817.1:p.Glu607Ter
NM_001136131.3:c.1713dup	NP_001129603.1:p.Glu572Ter
NM_001385253.1:c.1875dup	NP_001372182.1:p.Glu626Ter