Canonical Allele Identifier: CA2383551436
Community Standard Title: NM_000484.4(APP):c.2211+299_2211+301delinsGAC
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891421_25891423delinsGTC , CM000683.2:g.25891421_25891423delinsGTC GRCh38
NC_000021.8:g.27263733_27263735delinsGTC , CM000683.1:g.27263733_27263735delinsGTC GRCh37
NC_000021.7:g.26185604_26185606delinsGTC NCBI36
NG_007376.1:g.284398_284400delinsGAC
NG_007376.2:g.284706_284708delinsGAC

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.2211+299_2211+301delinsGAC MANE Select NP_000475.1:n.2211+299_2211+301delinsGAC
ENST00000346798.8:c.2211+299_2211+301delinsGAC MANE Select ENSP00000284981.4:n.2211+299_2211+301delinsGAC
NM_000484.3:c.2211+299_2211+301delinsGAC NP_000475.1:n.2211+299_2211+301delinsGAC
NM_001136016.3:c.2139+299_2139+301delinsGAC NP_001129488.1:n.2139+299_2139+301delinsGAC
NM_001136129.2:c.1818+299_1818+301delinsGAC NP_001129601.1:n.1818+299_1818+301delinsGAC
NM_001136129.3:c.1818+299_1818+301delinsGAC NP_001129601.1:n.1818+299_1818+301delinsGAC
NM_001136130.2:c.2043+299_2043+301delinsGAC NP_001129602.1:n.2043+299_2043+301delinsGAC
NM_001136130.3:c.2043+299_2043+301delinsGAC NP_001129602.1:n.2043+299_2043+301delinsGAC
NM_001136131.2:c.1881+299_1881+301delinsGAC NP_001129603.1:n.1881+299_1881+301delinsGAC
NM_001136131.3:c.1881+299_1881+301delinsGAC NP_001129603.1:n.1881+299_1881+301delinsGAC
NM_001204301.1:c.2157+299_2157+301delinsGAC NP_001191230.1:n.2157+299_2157+301delinsGAC
NM_001204301.2:c.2157+299_2157+301delinsGAC NP_001191230.1:n.2157+299_2157+301delinsGAC
NM_001204302.1:c.2100+299_2100+301delinsGAC NP_001191231.1:n.2100+299_2100+301delinsGAC
NM_001204302.2:c.2100+299_2100+301delinsGAC NP_001191231.1:n.2100+299_2100+301delinsGAC
NM_001204303.1:c.1932+299_1932+301delinsGAC NP_001191232.1:n.1932+299_1932+301delinsGAC
NM_001204303.2:c.1932+299_1932+301delinsGAC NP_001191232.1:n.1932+299_1932+301delinsGAC
NM_001385253.1:c.2043+299_2043+301delinsGAC NP_001372182.1:n.2043+299_2043+301delinsGAC
NM_201413.2:c.2154+299_2154+301delinsGAC NP_958816.1:n.2154+299_2154+301delinsGAC
NM_201413.3:c.2154+299_2154+301delinsGAC NP_958816.1:n.2154+299_2154+301delinsGAC
NM_201414.2:c.1986+299_1986+301delinsGAC NP_958817.1:n.1986+299_1986+301delinsGAC
NM_201414.3:c.1986+299_1986+301delinsGAC NP_958817.1:n.1986+299_1986+301delinsGAC
ENST00000346798.7:c.2211+299_2211+301delinsGAC ENSP00000284981.4:n.2211+299_2211+301delinsGAC
ENST00000348990.9:c.1986+299_1986+301delinsGAC ENSP00000345463.5:n.1986+299_1986+301delinsGAC
ENST00000354192.7:c.1818+299_1818+301delinsGAC ENSP00000346129.3:n.1818+299_1818+301delinsGAC
ENST00000357903.7:c.2154+299_2154+301delinsGAC ENSP00000350578.3:n.2154+299_2154+301delinsGAC
ENST00000358918.7:c.2157+299_2157+301delinsGAC ENSP00000351796.3:n.2157+299_2157+301delinsGAC
ENST00000359726.7:c.1881+299_1881+301delinsGAC ENSP00000352760.4:n.1881+299_1881+301delinsGAC
ENST00000439274.6:c.2043+299_2043+301delinsGAC ENSP00000398879.2:n.2043+299_2043+301delinsGAC
ENST00000440126.7:c.2139+299_2139+301delinsGAC ENSP00000387483.2:n.2139+299_2139+301delinsGAC
ENST00000464867.1:n.558+299_558+301delinsGAC
ENST00000707132.1:n.2178+299_2178+301delinsGAC
ENST00000707133.1:n.608+299_608+301delinsGAC
ENST00000707134.1:n.877+299_877+301delinsGAC