Canonical Allele Identifier: CA920285225

Gene: APP

Linked Data

• dbSNP Id: rs1601294761
• gnomAD v3: 21-25891516-ACT-A
• gnomAD v4: 21-25891516-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891520_25891521del , CM000683.2:g.25891520_25891521del	GRCh38
NC_000021.8:g.27263832_27263833del , CM000683.1:g.27263832_27263833del	GRCh37
NC_000021.7:g.26185703_26185704del	NCBI36
NG_007376.1:g.284303_284304del
NG_007376.2:g.284611_284612del

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2178+204_2178+205del
ENST00000707133.1:n.608+204_608+205del
ENST00000707134.1:n.877+204_877+205del
ENST00000346798.8:c.2211+204_2211+205del MANE Select	ENSP00000284981.4:n.2211+204_2211+205del
ENST00000346798.7:c.2211+204_2211+205del	ENSP00000284981.4:n.2211+204_2211+205del
ENST00000348990.9:c.1986+204_1986+205del	ENSP00000345463.5:n.1986+204_1986+205del
ENST00000354192.7:c.1818+204_1818+205del	ENSP00000346129.3:n.1818+204_1818+205del
ENST00000357903.7:c.2154+204_2154+205del	ENSP00000350578.3:n.2154+204_2154+205del
ENST00000358918.7:c.2157+204_2157+205del	ENSP00000351796.3:n.2157+204_2157+205del
ENST00000359726.7:c.1881+204_1881+205del	ENSP00000352760.4:n.1881+204_1881+205del
ENST00000439274.6:c.2043+204_2043+205del	ENSP00000398879.2:n.2043+204_2043+205del
ENST00000440126.7:c.2139+204_2139+205del	ENSP00000387483.2:n.2139+204_2139+205del
ENST00000464867.1:n.558+204_558+205del
NM_000484.3:c.2211+204_2211+205del	NP_000475.1:n.2211+204_2211+205del
NM_001136016.3:c.2139+204_2139+205del	NP_001129488.1:n.2139+204_2139+205del
NM_001136129.2:c.1818+204_1818+205del	NP_001129601.1:n.1818+204_1818+205del
NM_001136130.2:c.2043+204_2043+205del	NP_001129602.1:n.2043+204_2043+205del
NM_001136131.2:c.1881+204_1881+205del	NP_001129603.1:n.1881+204_1881+205del
NM_001204301.1:c.2157+204_2157+205del	NP_001191230.1:n.2157+204_2157+205del
NM_001204302.1:c.2100+204_2100+205del	NP_001191231.1:n.2100+204_2100+205del
NM_001204303.1:c.1932+204_1932+205del	NP_001191232.1:n.1932+204_1932+205del
NM_201413.2:c.2154+204_2154+205del	NP_958816.1:n.2154+204_2154+205del
NM_201414.2:c.1986+204_1986+205del	NP_958817.1:n.1986+204_1986+205del
NM_000484.4:c.2211+204_2211+205del MANE Select	NP_000475.1:n.2211+204_2211+205del
NM_001136129.3:c.1818+204_1818+205del	NP_001129601.1:n.1818+204_1818+205del
NM_001136130.3:c.2043+204_2043+205del	NP_001129602.1:n.2043+204_2043+205del
NM_001204301.2:c.2157+204_2157+205del	NP_001191230.1:n.2157+204_2157+205del
NM_001204302.2:c.2100+204_2100+205del	NP_001191231.1:n.2100+204_2100+205del
NM_001204303.2:c.1932+204_1932+205del	NP_001191232.1:n.1932+204_1932+205del
NM_201413.3:c.2154+204_2154+205del	NP_958816.1:n.2154+204_2154+205del
NM_201414.3:c.1986+204_1986+205del	NP_958817.1:n.1986+204_1986+205del
NM_001136131.3:c.1881+204_1881+205del	NP_001129603.1:n.1881+204_1881+205del
NM_001385253.1:c.2043+204_2043+205del	NP_001372182.1:n.2043+204_2043+205del