Canonical Allele Identifier: CA2654123114
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897507_25897525del , CM000683.2:g.25897507_25897525del GRCh38
NC_000021.8:g.27269819_27269837del , CM000683.1:g.27269819_27269837del GRCh37
NC_000021.7:g.26191690_26191708del NCBI36
NG_007376.1:g.278296_278314del
NG_007376.2:g.278604_278622del

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2031+48_2031+66del
ENST00000707133.1:n.461+48_461+66del
ENST00000707134.1:n.730+48_730+66del
ENST00000346798.8:c.2064+48_2064+66del MANE Select ENSP00000284981.4:n.2064+48_2064+66del
ENST00000346798.7:c.2064+48_2064+66del ENSP00000284981.4:n.2064+48_2064+66del
ENST00000348990.9:c.1839+48_1839+66del ENSP00000345463.5:n.1839+48_1839+66del
ENST00000354192.7:c.1671+48_1671+66del ENSP00000346129.3:n.1671+48_1671+66del
ENST00000357903.7:c.2007+48_2007+66del ENSP00000350578.3:n.2007+48_2007+66del
ENST00000358918.7:c.2010+48_2010+66del ENSP00000351796.3:n.2010+48_2010+66del
ENST00000359726.7:c.1734+48_1734+66del ENSP00000352760.4:n.1734+48_1734+66del
ENST00000439274.6:c.1896+48_1896+66del ENSP00000398879.2:n.1896+48_1896+66del
ENST00000440126.7:c.1992+48_1992+66del ENSP00000387483.2:n.1992+48_1992+66del
ENST00000464867.1:n.411+48_411+66del
NM_000484.3:c.2064+48_2064+66del NP_000475.1:n.2064+48_2064+66del
NM_001136016.3:c.1992+48_1992+66del NP_001129488.1:n.1992+48_1992+66del
NM_001136129.2:c.1671+48_1671+66del NP_001129601.1:n.1671+48_1671+66del
NM_001136130.2:c.1896+48_1896+66del NP_001129602.1:n.1896+48_1896+66del
NM_001136131.2:c.1734+48_1734+66del NP_001129603.1:n.1734+48_1734+66del
NM_001204301.1:c.2010+48_2010+66del NP_001191230.1:n.2010+48_2010+66del
NM_001204302.1:c.1953+48_1953+66del NP_001191231.1:n.1953+48_1953+66del
NM_001204303.1:c.1785+48_1785+66del NP_001191232.1:n.1785+48_1785+66del
NM_201413.2:c.2007+48_2007+66del NP_958816.1:n.2007+48_2007+66del
NM_201414.2:c.1839+48_1839+66del NP_958817.1:n.1839+48_1839+66del
NM_000484.4:c.2064+48_2064+66del MANE Select NP_000475.1:n.2064+48_2064+66del
NM_001136129.3:c.1671+48_1671+66del NP_001129601.1:n.1671+48_1671+66del
NM_001136130.3:c.1896+48_1896+66del NP_001129602.1:n.1896+48_1896+66del
NM_001204301.2:c.2010+48_2010+66del NP_001191230.1:n.2010+48_2010+66del
NM_001204302.2:c.1953+48_1953+66del NP_001191231.1:n.1953+48_1953+66del
NM_001204303.2:c.1785+48_1785+66del NP_001191232.1:n.1785+48_1785+66del
NM_201413.3:c.2007+48_2007+66del NP_958816.1:n.2007+48_2007+66del
NM_201414.3:c.1839+48_1839+66del NP_958817.1:n.1839+48_1839+66del
NM_001136131.3:c.1734+48_1734+66del NP_001129603.1:n.1734+48_1734+66del
NM_001385253.1:c.1896+48_1896+66del NP_001372182.1:n.1896+48_1896+66del