Canonical Allele Identifier: CA2654122471

Gene: APP

Linked Data

• gnomAD v4: 21-25891827-G-GATTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891829_25891833dup , CM000683.2:g.25891829_25891833dup	GRCh38
NC_000021.8:g.27264141_27264145dup , CM000683.1:g.27264141_27264145dup	GRCh37
NC_000021.7:g.26186012_26186016dup	NCBI36
NG_007376.1:g.283989_283993dup
NG_007376.2:g.284297_284301dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2068_2072dup
ENST00000707133.1:n.498_502dup
ENST00000707134.1:n.767_771dup
ENST00000346798.8:c.2101_2105dup MANE Select	ENSP00000284981.4:p.Ile702MetfsTer13
ENST00000346798.7:c.2101_2105dup	ENSP00000284981.4:p.Ile702MetfsTer13
ENST00000348990.9:c.1876_1880dup	ENSP00000345463.5:p.Ile627MetfsTer13
ENST00000354192.7:c.1708_1712dup	ENSP00000346129.3:p.Ile571MetfsTer13
ENST00000357903.7:c.2044_2048dup	ENSP00000350578.3:p.Ile683MetfsTer13
ENST00000358918.7:c.2047_2051dup	ENSP00000351796.3:p.Ile684MetfsTer13
ENST00000359726.7:c.1771_1775dup	ENSP00000352760.4:p.Ile592MetfsTer13
ENST00000439274.6:c.1933_1937dup	ENSP00000398879.2:p.Ile646MetfsTer13
ENST00000440126.7:c.2029_2033dup	ENSP00000387483.2:p.Ile678MetfsTer13
ENST00000464867.1:n.448_452dup
NM_000484.3:c.2101_2105dup	NP_000475.1:p.Ile702MetfsTer13
NM_001136016.3:c.2029_2033dup	NP_001129488.1:p.Ile678MetfsTer13
NM_001136129.2:c.1708_1712dup	NP_001129601.1:p.Ile571MetfsTer13
NM_001136130.2:c.1933_1937dup	NP_001129602.1:p.Ile646MetfsTer13
NM_001136131.2:c.1771_1775dup	NP_001129603.1:p.Ile592MetfsTer13
NM_001204301.1:c.2047_2051dup	NP_001191230.1:p.Ile684MetfsTer13
NM_001204302.1:c.1990_1994dup	NP_001191231.1:p.Ile665MetfsTer13
NM_001204303.1:c.1822_1826dup	NP_001191232.1:p.Ile609MetfsTer13
NM_201413.2:c.2044_2048dup	NP_958816.1:p.Ile683MetfsTer13
NM_201414.2:c.1876_1880dup	NP_958817.1:p.Ile627MetfsTer13
NM_000484.4:c.2101_2105dup MANE Select	NP_000475.1:p.Ile702MetfsTer13
NM_001136129.3:c.1708_1712dup	NP_001129601.1:p.Ile571MetfsTer13
NM_001136130.3:c.1933_1937dup	NP_001129602.1:p.Ile646MetfsTer13
NM_001204301.2:c.2047_2051dup	NP_001191230.1:p.Ile684MetfsTer13
NM_001204302.2:c.1990_1994dup	NP_001191231.1:p.Ile665MetfsTer13
NM_001204303.2:c.1822_1826dup	NP_001191232.1:p.Ile609MetfsTer13
NM_201413.3:c.2044_2048dup	NP_958816.1:p.Ile683MetfsTer13
NM_201414.3:c.1876_1880dup	NP_958817.1:p.Ile627MetfsTer13
NM_001136131.3:c.1771_1775dup	NP_001129603.1:p.Ile592MetfsTer13
NM_001385253.1:c.1933_1937dup	NP_001372182.1:p.Ile646MetfsTer13