Canonical Allele Identifier: CA3265906683
Community Standard Title: NM_000484.4(APP):c.2211+3_2212-2del
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25881773_25891719del , CM000683.2:g.25881773_25891719del GRCh38
NG_007376.2:g.284410_294356del

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.2211+3_2212-2del MANE Select NP_000475.1:n.2211+3_2212-2del
ENST00000346798.8:c.2211+3_2212-2del MANE Select ENSP00000284981.4:n.2211+3_2212-2del
NM_000484.3:c.2211+3_2212-2del NP_000475.1:n.2211+3_2212-2del
NM_001136016.3:c.2139+3_2140-2del NP_001129488.1:n.2139+3_2140-2del
NM_001136129.2:c.1818+3_1819-2del NP_001129601.1:n.1818+3_1819-2del
NM_001136129.3:c.1818+3_1819-2del NP_001129601.1:n.1818+3_1819-2del
NM_001136130.2:c.2043+3_2044-2del NP_001129602.1:n.2043+3_2044-2del
NM_001136130.3:c.2043+3_2044-2del NP_001129602.1:n.2043+3_2044-2del
NM_001136131.2:c.1881+3_1882-2del NP_001129603.1:n.1881+3_1882-2del
NM_001136131.3:c.1881+3_1882-2del NP_001129603.1:n.1881+3_1882-2del
NM_001204301.1:c.2157+3_2158-2del NP_001191230.1:n.2157+3_2158-2del
NM_001204301.2:c.2157+3_2158-2del NP_001191230.1:n.2157+3_2158-2del
NM_001204302.1:c.2100+3_2101-2del NP_001191231.1:n.2100+3_2101-2del
NM_001204302.2:c.2100+3_2101-2del NP_001191231.1:n.2100+3_2101-2del
NM_001204303.1:c.1932+3_1933-2del NP_001191232.1:n.1932+3_1933-2del
NM_001204303.2:c.1932+3_1933-2del NP_001191232.1:n.1932+3_1933-2del
NM_001385253.1:c.2043+3_2044-2del NP_001372182.1:n.2043+3_2044-2del
NM_201413.2:c.2154+3_2155-2del NP_958816.1:n.2154+3_2155-2del
NM_201413.3:c.2154+3_2155-2del NP_958816.1:n.2154+3_2155-2del
NM_201414.2:c.1986+3_1987-2del NP_958817.1:n.1986+3_1987-2del
NM_201414.3:c.1986+3_1987-2del NP_958817.1:n.1986+3_1987-2del
ENST00000346798.7:c.2211+3_2212-2del ENSP00000284981.4:n.2211+3_2212-2del
ENST00000348990.9:c.1986+3_1987-2del ENSP00000345463.5:n.1986+3_1987-2del
ENST00000354192.7:c.1818+3_1819-2del ENSP00000346129.3:n.1818+3_1819-2del
ENST00000357903.7:c.2154+3_2155-2del ENSP00000350578.3:n.2154+3_2155-2del
ENST00000358918.7:c.2157+3_2158-2del ENSP00000351796.3:n.2157+3_2158-2del
ENST00000359726.7:c.1881+3_1882-2del ENSP00000352760.4:n.1881+3_1882-2del
ENST00000439274.6:c.2043+3_2044-2del ENSP00000398879.2:n.2043+3_2044-2del
ENST00000440126.7:c.2139+3_2140-2del ENSP00000387483.2:n.2139+3_2140-2del
ENST00000464867.1:n.558+3_559-2del
ENST00000707132.1:n.2178+3_2179-2del
ENST00000707133.1:n.608+3_609-2del
ENST00000707134.1:n.877+3_878-2del