Canonical Allele Identifier: CA1021421314

Gene: APP

Linked Data

• dbSNP Id: rs2037685878
• gnomAD v3: 21-25891397-GTTGC-G
• gnomAD v4: 21-25891397-GTTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891401_25891404del , CM000683.2:g.25891401_25891404del	GRCh38
NC_000021.8:g.27263713_27263716del , CM000683.1:g.27263713_27263716del	GRCh37
NC_000021.7:g.26185584_26185587del	NCBI36
NG_007376.1:g.284420_284423del
NG_007376.2:g.284728_284731del

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2178+321_2178+324del
ENST00000707133.1:n.608+321_608+324del
ENST00000707134.1:n.877+321_877+324del
ENST00000346798.8:c.2211+321_2211+324del MANE Select	ENSP00000284981.4:n.2211+321_2211+324del
ENST00000346798.7:c.2211+321_2211+324del	ENSP00000284981.4:n.2211+321_2211+324del
ENST00000348990.9:c.1986+321_1986+324del	ENSP00000345463.5:n.1986+321_1986+324del
ENST00000354192.7:c.1818+321_1818+324del	ENSP00000346129.3:n.1818+321_1818+324del
ENST00000357903.7:c.2154+321_2154+324del	ENSP00000350578.3:n.2154+321_2154+324del
ENST00000358918.7:c.2157+321_2157+324del	ENSP00000351796.3:n.2157+321_2157+324del
ENST00000359726.7:c.1881+321_1881+324del	ENSP00000352760.4:n.1881+321_1881+324del
ENST00000439274.6:c.2043+321_2043+324del	ENSP00000398879.2:n.2043+321_2043+324del
ENST00000440126.7:c.2139+321_2139+324del	ENSP00000387483.2:n.2139+321_2139+324del
ENST00000464867.1:n.558+321_558+324del
NM_000484.3:c.2211+321_2211+324del	NP_000475.1:n.2211+321_2211+324del
NM_001136016.3:c.2139+321_2139+324del	NP_001129488.1:n.2139+321_2139+324del
NM_001136129.2:c.1818+321_1818+324del	NP_001129601.1:n.1818+321_1818+324del
NM_001136130.2:c.2043+321_2043+324del	NP_001129602.1:n.2043+321_2043+324del
NM_001136131.2:c.1881+321_1881+324del	NP_001129603.1:n.1881+321_1881+324del
NM_001204301.1:c.2157+321_2157+324del	NP_001191230.1:n.2157+321_2157+324del
NM_001204302.1:c.2100+321_2100+324del	NP_001191231.1:n.2100+321_2100+324del
NM_001204303.1:c.1932+321_1932+324del	NP_001191232.1:n.1932+321_1932+324del
NM_201413.2:c.2154+321_2154+324del	NP_958816.1:n.2154+321_2154+324del
NM_201414.2:c.1986+321_1986+324del	NP_958817.1:n.1986+321_1986+324del
NM_000484.4:c.2211+321_2211+324del MANE Select	NP_000475.1:n.2211+321_2211+324del
NM_001136129.3:c.1818+321_1818+324del	NP_001129601.1:n.1818+321_1818+324del
NM_001136130.3:c.2043+321_2043+324del	NP_001129602.1:n.2043+321_2043+324del
NM_001204301.2:c.2157+321_2157+324del	NP_001191230.1:n.2157+321_2157+324del
NM_001204302.2:c.2100+321_2100+324del	NP_001191231.1:n.2100+321_2100+324del
NM_001204303.2:c.1932+321_1932+324del	NP_001191232.1:n.1932+321_1932+324del
NM_201413.3:c.2154+321_2154+324del	NP_958816.1:n.2154+321_2154+324del
NM_201414.3:c.1986+321_1986+324del	NP_958817.1:n.1986+321_1986+324del
NM_001136131.3:c.1881+321_1881+324del	NP_001129603.1:n.1881+321_1881+324del
NM_001385253.1:c.2043+321_2043+324del	NP_001372182.1:n.2043+321_2043+324del