Canonical Allele Identifier: CA748242525

Gene: APP

Linked Data

• dbSNP Id: rs1378145419
• gnomAD v3: 21-25891580-GAAC-G
• gnomAD v4: 21-25891580-GAAC-G
• MyVariant Identifiers: chr21:g.27263893_27263895del (hg19) ; chr21:g.25891581_25891583del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891584_25891586del , CM000683.2:g.25891584_25891586del	GRCh38
NC_000021.8:g.27263896_27263898del , CM000683.1:g.27263896_27263898del	GRCh37
NC_000021.7:g.26185767_26185769del	NCBI36
NG_007376.1:g.284238_284240del
NG_007376.2:g.284546_284548del

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2178+139_2178+141del
ENST00000707133.1:n.608+139_608+141del
ENST00000707134.1:n.877+139_877+141del
ENST00000346798.8:c.2211+139_2211+141del MANE Select	ENSP00000284981.4:n.2211+139_2211+141del
ENST00000346798.7:c.2211+139_2211+141del	ENSP00000284981.4:n.2211+139_2211+141del
ENST00000348990.9:c.1986+139_1986+141del	ENSP00000345463.5:n.1986+139_1986+141del
ENST00000354192.7:c.1818+139_1818+141del	ENSP00000346129.3:n.1818+139_1818+141del
ENST00000357903.7:c.2154+139_2154+141del	ENSP00000350578.3:n.2154+139_2154+141del
ENST00000358918.7:c.2157+139_2157+141del	ENSP00000351796.3:n.2157+139_2157+141del
ENST00000359726.7:c.1881+139_1881+141del	ENSP00000352760.4:n.1881+139_1881+141del
ENST00000439274.6:c.2043+139_2043+141del	ENSP00000398879.2:n.2043+139_2043+141del
ENST00000440126.7:c.2139+139_2139+141del	ENSP00000387483.2:n.2139+139_2139+141del
ENST00000464867.1:n.558+139_558+141del
NM_000484.3:c.2211+139_2211+141del	NP_000475.1:n.2211+139_2211+141del
NM_001136016.3:c.2139+139_2139+141del	NP_001129488.1:n.2139+139_2139+141del
NM_001136129.2:c.1818+139_1818+141del	NP_001129601.1:n.1818+139_1818+141del
NM_001136130.2:c.2043+139_2043+141del	NP_001129602.1:n.2043+139_2043+141del
NM_001136131.2:c.1881+139_1881+141del	NP_001129603.1:n.1881+139_1881+141del
NM_001204301.1:c.2157+139_2157+141del	NP_001191230.1:n.2157+139_2157+141del
NM_001204302.1:c.2100+139_2100+141del	NP_001191231.1:n.2100+139_2100+141del
NM_001204303.1:c.1932+139_1932+141del	NP_001191232.1:n.1932+139_1932+141del
NM_201413.2:c.2154+139_2154+141del	NP_958816.1:n.2154+139_2154+141del
NM_201414.2:c.1986+139_1986+141del	NP_958817.1:n.1986+139_1986+141del
NM_000484.4:c.2211+139_2211+141del MANE Select	NP_000475.1:n.2211+139_2211+141del
NM_001136129.3:c.1818+139_1818+141del	NP_001129601.1:n.1818+139_1818+141del
NM_001136130.3:c.2043+139_2043+141del	NP_001129602.1:n.2043+139_2043+141del
NM_001204301.2:c.2157+139_2157+141del	NP_001191230.1:n.2157+139_2157+141del
NM_001204302.2:c.2100+139_2100+141del	NP_001191231.1:n.2100+139_2100+141del
NM_001204303.2:c.1932+139_1932+141del	NP_001191232.1:n.1932+139_1932+141del
NM_201413.3:c.2154+139_2154+141del	NP_958816.1:n.2154+139_2154+141del
NM_201414.3:c.1986+139_1986+141del	NP_958817.1:n.1986+139_1986+141del
NM_001136131.3:c.1881+139_1881+141del	NP_001129603.1:n.1881+139_1881+141del
NM_001385253.1:c.2043+139_2043+141del	NP_001372182.1:n.2043+139_2043+141del