Canonical Allele Identifier: CA2817566498
Community Standard Title: NM_000484.4(APP):c.2211+311_2211+312insTTTTTTTG
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891410_25891411insCAAAAAAA , CM000683.2:g.25891410_25891411insCAAAAAAA GRCh38
NC_000021.8:g.27263722_27263723insCAAAAAAA , CM000683.1:g.27263722_27263723insCAAAAAAA GRCh37
NC_000021.7:g.26185593_26185594insCAAAAAAA NCBI36
NG_007376.1:g.284410_284411insTTTTTTTG
NG_007376.2:g.284718_284719insTTTTTTTG

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.2211+311_2211+312insTTTTTTTG MANE Select NP_000475.1:n.2211+311_2211+312insTTTTTTTG
ENST00000346798.8:c.2211+311_2211+312insTTTTTTTG MANE Select ENSP00000284981.4:n.2211+311_2211+312insTTTTTTTG
NM_000484.3:c.2211+311_2211+312insTTTTTTTG NP_000475.1:n.2211+311_2211+312insTTTTTTTG
NM_001136016.3:c.2139+311_2139+312insTTTTTTTG NP_001129488.1:n.2139+311_2139+312insTTTTTTTG
NM_001136129.2:c.1818+311_1818+312insTTTTTTTG NP_001129601.1:n.1818+311_1818+312insTTTTTTTG
NM_001136129.3:c.1818+311_1818+312insTTTTTTTG NP_001129601.1:n.1818+311_1818+312insTTTTTTTG
NM_001136130.2:c.2043+311_2043+312insTTTTTTTG NP_001129602.1:n.2043+311_2043+312insTTTTTTTG
NM_001136130.3:c.2043+311_2043+312insTTTTTTTG NP_001129602.1:n.2043+311_2043+312insTTTTTTTG
NM_001136131.2:c.1881+311_1881+312insTTTTTTTG NP_001129603.1:n.1881+311_1881+312insTTTTTTTG
NM_001136131.3:c.1881+311_1881+312insTTTTTTTG NP_001129603.1:n.1881+311_1881+312insTTTTTTTG
NM_001204301.1:c.2157+311_2157+312insTTTTTTTG NP_001191230.1:n.2157+311_2157+312insTTTTTTTG
NM_001204301.2:c.2157+311_2157+312insTTTTTTTG NP_001191230.1:n.2157+311_2157+312insTTTTTTTG
NM_001204302.1:c.2100+311_2100+312insTTTTTTTG NP_001191231.1:n.2100+311_2100+312insTTTTTTTG
NM_001204302.2:c.2100+311_2100+312insTTTTTTTG NP_001191231.1:n.2100+311_2100+312insTTTTTTTG
NM_001204303.1:c.1932+311_1932+312insTTTTTTTG NP_001191232.1:n.1932+311_1932+312insTTTTTTTG
NM_001204303.2:c.1932+311_1932+312insTTTTTTTG NP_001191232.1:n.1932+311_1932+312insTTTTTTTG
NM_001385253.1:c.2043+311_2043+312insTTTTTTTG NP_001372182.1:n.2043+311_2043+312insTTTTTTTG
NM_201413.2:c.2154+311_2154+312insTTTTTTTG NP_958816.1:n.2154+311_2154+312insTTTTTTTG
NM_201413.3:c.2154+311_2154+312insTTTTTTTG NP_958816.1:n.2154+311_2154+312insTTTTTTTG
NM_201414.2:c.1986+311_1986+312insTTTTTTTG NP_958817.1:n.1986+311_1986+312insTTTTTTTG
NM_201414.3:c.1986+311_1986+312insTTTTTTTG NP_958817.1:n.1986+311_1986+312insTTTTTTTG
ENST00000346798.7:c.2211+311_2211+312insTTTTTTTG ENSP00000284981.4:n.2211+311_2211+312insTTTTTTTG
ENST00000348990.9:c.1986+311_1986+312insTTTTTTTG ENSP00000345463.5:n.1986+311_1986+312insTTTTTTTG
ENST00000354192.7:c.1818+311_1818+312insTTTTTTTG ENSP00000346129.3:n.1818+311_1818+312insTTTTTTTG
ENST00000357903.7:c.2154+311_2154+312insTTTTTTTG ENSP00000350578.3:n.2154+311_2154+312insTTTTTTTG
ENST00000358918.7:c.2157+311_2157+312insTTTTTTTG ENSP00000351796.3:n.2157+311_2157+312insTTTTTTTG
ENST00000359726.7:c.1881+311_1881+312insTTTTTTTG ENSP00000352760.4:n.1881+311_1881+312insTTTTTTTG
ENST00000439274.6:c.2043+311_2043+312insTTTTTTTG ENSP00000398879.2:n.2043+311_2043+312insTTTTTTTG
ENST00000440126.7:c.2139+311_2139+312insTTTTTTTG ENSP00000387483.2:n.2139+311_2139+312insTTTTTTTG
ENST00000464867.1:n.558+311_558+312insTTTTTTTG
ENST00000707132.1:n.2178+311_2178+312insTTTTTTTG
ENST00000707133.1:n.608+311_608+312insTTTTTTTG
ENST00000707134.1:n.877+311_877+312insTTTTTTTG