Canonical Allele Identifier: CA637163720

Gene: APP

Linked Data

• dbSNP Id: rs1399681692
• gnomAD v2: 21-27270002-T-TTAAAG
• gnomAD v4: 21-25897690-T-TTAAAG
• MyVariant Identifiers: chr21:g.27270002_27270003insTAAAG (hg19) ; chr21:g.25897690_25897691insTAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897693_25897697dup , CM000683.2:g.25897693_25897697dup	GRCh38
NC_000021.8:g.27270005_27270009dup , CM000683.1:g.27270005_27270009dup	GRCh37
NC_000021.7:g.26191876_26191880dup	NCBI36
NG_007376.1:g.278126_278130dup
NG_007376.2:g.278434_278438dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.1931-22_1931-18dup
ENST00000707133.1:n.361-22_361-18dup
ENST00000707134.1:n.630-22_630-18dup
ENST00000346798.8:c.1964-22_1964-18dup MANE Select	ENSP00000284981.4:n.1964-22_1964-18dup
ENST00000346798.7:c.1964-22_1964-18dup	ENSP00000284981.4:n.1964-22_1964-18dup
ENST00000348990.9:c.1739-22_1739-18dup	ENSP00000345463.5:n.1739-22_1739-18dup
ENST00000354192.7:c.1571-22_1571-18dup	ENSP00000346129.3:n.1571-22_1571-18dup
ENST00000357903.7:c.1907-22_1907-18dup	ENSP00000350578.3:n.1907-22_1907-18dup
ENST00000358918.7:c.1910-22_1910-18dup	ENSP00000351796.3:n.1910-22_1910-18dup
ENST00000359726.7:c.1634-22_1634-18dup	ENSP00000352760.4:n.1634-22_1634-18dup
ENST00000439274.6:c.1796-22_1796-18dup	ENSP00000398879.2:n.1796-22_1796-18dup
ENST00000440126.7:c.1892-22_1892-18dup	ENSP00000387483.2:n.1892-22_1892-18dup
ENST00000464867.1:n.289_293dup
NM_000484.3:c.1964-22_1964-18dup	NP_000475.1:n.1964-22_1964-18dup
NM_001136016.3:c.1892-22_1892-18dup	NP_001129488.1:n.1892-22_1892-18dup
NM_001136129.2:c.1571-22_1571-18dup	NP_001129601.1:n.1571-22_1571-18dup
NM_001136130.2:c.1796-22_1796-18dup	NP_001129602.1:n.1796-22_1796-18dup
NM_001136131.2:c.1634-22_1634-18dup	NP_001129603.1:n.1634-22_1634-18dup
NM_001204301.1:c.1910-22_1910-18dup	NP_001191230.1:n.1910-22_1910-18dup
NM_001204302.1:c.1853-22_1853-18dup	NP_001191231.1:n.1853-22_1853-18dup
NM_001204303.1:c.1685-22_1685-18dup	NP_001191232.1:n.1685-22_1685-18dup
NM_201413.2:c.1907-22_1907-18dup	NP_958816.1:n.1907-22_1907-18dup
NM_201414.2:c.1739-22_1739-18dup	NP_958817.1:n.1739-22_1739-18dup
NM_000484.4:c.1964-22_1964-18dup MANE Select	NP_000475.1:n.1964-22_1964-18dup
NM_001136129.3:c.1571-22_1571-18dup	NP_001129601.1:n.1571-22_1571-18dup
NM_001136130.3:c.1796-22_1796-18dup	NP_001129602.1:n.1796-22_1796-18dup
NM_001204301.2:c.1910-22_1910-18dup	NP_001191230.1:n.1910-22_1910-18dup
NM_001204302.2:c.1853-22_1853-18dup	NP_001191231.1:n.1853-22_1853-18dup
NM_001204303.2:c.1685-22_1685-18dup	NP_001191232.1:n.1685-22_1685-18dup
NM_201413.3:c.1907-22_1907-18dup	NP_958816.1:n.1907-22_1907-18dup
NM_201414.3:c.1739-22_1739-18dup	NP_958817.1:n.1739-22_1739-18dup
NM_001136131.3:c.1634-22_1634-18dup	NP_001129603.1:n.1634-22_1634-18dup
NM_001385253.1:c.1796-22_1796-18dup	NP_001372182.1:n.1796-22_1796-18dup