Canonical Allele Identifier: CA2577467053
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891673_25891676del , CM000683.2:g.25891673_25891676del GRCh38
NC_000021.8:g.27263985_27263988del , CM000683.1:g.27263985_27263988del GRCh37
NC_000021.7:g.26185856_26185859del NCBI36
NG_007376.1:g.284147_284150del
NG_007376.2:g.284455_284458del

Transcript Alleles

HGVS Amino-acid Change
ENST00000707132.1:n.2178+48_2178+51del
ENST00000707133.1:n.608+48_608+51del
ENST00000707134.1:n.877+48_877+51del
ENST00000346798.8:c.2211+48_2211+51del MANE Select ENSP00000284981.4:n.2211+48_2211+51del
ENST00000346798.7:c.2211+48_2211+51del ENSP00000284981.4:n.2211+48_2211+51del
ENST00000348990.9:c.1986+48_1986+51del ENSP00000345463.5:n.1986+48_1986+51del
ENST00000354192.7:c.1818+48_1818+51del ENSP00000346129.3:n.1818+48_1818+51del
ENST00000357903.7:c.2154+48_2154+51del ENSP00000350578.3:n.2154+48_2154+51del
ENST00000358918.7:c.2157+48_2157+51del ENSP00000351796.3:n.2157+48_2157+51del
ENST00000359726.7:c.1881+48_1881+51del ENSP00000352760.4:n.1881+48_1881+51del
ENST00000439274.6:c.2043+48_2043+51del ENSP00000398879.2:n.2043+48_2043+51del
ENST00000440126.7:c.2139+48_2139+51del ENSP00000387483.2:n.2139+48_2139+51del
ENST00000464867.1:n.558+48_558+51del
NM_000484.3:c.2211+48_2211+51del NP_000475.1:n.2211+48_2211+51del
NM_001136016.3:c.2139+48_2139+51del NP_001129488.1:n.2139+48_2139+51del
NM_001136129.2:c.1818+48_1818+51del NP_001129601.1:n.1818+48_1818+51del
NM_001136130.2:c.2043+48_2043+51del NP_001129602.1:n.2043+48_2043+51del
NM_001136131.2:c.1881+48_1881+51del NP_001129603.1:n.1881+48_1881+51del
NM_001204301.1:c.2157+48_2157+51del NP_001191230.1:n.2157+48_2157+51del
NM_001204302.1:c.2100+48_2100+51del NP_001191231.1:n.2100+48_2100+51del
NM_001204303.1:c.1932+48_1932+51del NP_001191232.1:n.1932+48_1932+51del
NM_201413.2:c.2154+48_2154+51del NP_958816.1:n.2154+48_2154+51del
NM_201414.2:c.1986+48_1986+51del NP_958817.1:n.1986+48_1986+51del
NM_000484.4:c.2211+48_2211+51del MANE Select NP_000475.1:n.2211+48_2211+51del
NM_001136129.3:c.1818+48_1818+51del NP_001129601.1:n.1818+48_1818+51del
NM_001136130.3:c.2043+48_2043+51del NP_001129602.1:n.2043+48_2043+51del
NM_001204301.2:c.2157+48_2157+51del NP_001191230.1:n.2157+48_2157+51del
NM_001204302.2:c.2100+48_2100+51del NP_001191231.1:n.2100+48_2100+51del
NM_001204303.2:c.1932+48_1932+51del NP_001191232.1:n.1932+48_1932+51del
NM_201413.3:c.2154+48_2154+51del NP_958816.1:n.2154+48_2154+51del
NM_201414.3:c.1986+48_1986+51del NP_958817.1:n.1986+48_1986+51del
NM_001136131.3:c.1881+48_1881+51del NP_001129603.1:n.1881+48_1881+51del
NM_001385253.1:c.2043+48_2043+51del NP_001372182.1:n.2043+48_2043+51del