Canonical Allele Identifier: CA2654122406

Gene: APP

Linked Data

• gnomAD v4: 21-25891763-TCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891766_25891768del , CM000683.2:g.25891766_25891768del	GRCh38
NC_000021.8:g.27264078_27264080del , CM000683.1:g.27264078_27264080del	GRCh37
NC_000021.7:g.26185949_26185951del	NCBI36
NG_007376.1:g.284055_284057del
NG_007376.2:g.284363_284365del

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2134_2136del
ENST00000707133.1:n.564_566del
ENST00000707134.1:n.833_835del
ENST00000346798.8:c.2167_2169del MANE Select	ENSP00000284981.4:p.Leu723del
ENST00000346798.7:c.2167_2169del	ENSP00000284981.4:p.Leu723del
ENST00000348990.9:c.1942_1944del	ENSP00000345463.5:p.Leu648del
ENST00000354192.7:c.1774_1776del	ENSP00000346129.3:p.Leu592del
ENST00000357903.7:c.2110_2112del	ENSP00000350578.3:p.Leu704del
ENST00000358918.7:c.2113_2115del	ENSP00000351796.3:p.Leu705del
ENST00000359726.7:c.1837_1839del	ENSP00000352760.4:p.Leu613del
ENST00000439274.6:c.1999_2001del	ENSP00000398879.2:p.Leu667del
ENST00000440126.7:c.2095_2097del	ENSP00000387483.2:p.Leu699del
ENST00000464867.1:n.514_516del
NM_000484.3:c.2167_2169del	NP_000475.1:p.Leu723del
NM_001136016.3:c.2095_2097del	NP_001129488.1:p.Leu699del
NM_001136129.2:c.1774_1776del	NP_001129601.1:p.Leu592del
NM_001136130.2:c.1999_2001del	NP_001129602.1:p.Leu667del
NM_001136131.2:c.1837_1839del	NP_001129603.1:p.Leu613del
NM_001204301.1:c.2113_2115del	NP_001191230.1:p.Leu705del
NM_001204302.1:c.2056_2058del	NP_001191231.1:p.Leu686del
NM_001204303.1:c.1888_1890del	NP_001191232.1:p.Leu630del
NM_201413.2:c.2110_2112del	NP_958816.1:p.Leu704del
NM_201414.2:c.1942_1944del	NP_958817.1:p.Leu648del
NM_000484.4:c.2167_2169del MANE Select	NP_000475.1:p.Leu723del
NM_001136129.3:c.1774_1776del	NP_001129601.1:p.Leu592del
NM_001136130.3:c.1999_2001del	NP_001129602.1:p.Leu667del
NM_001204301.2:c.2113_2115del	NP_001191230.1:p.Leu705del
NM_001204302.2:c.2056_2058del	NP_001191231.1:p.Leu686del
NM_001204303.2:c.1888_1890del	NP_001191232.1:p.Leu630del
NM_201413.3:c.2110_2112del	NP_958816.1:p.Leu704del
NM_201414.3:c.1942_1944del	NP_958817.1:p.Leu648del
NM_001136131.3:c.1837_1839del	NP_001129603.1:p.Leu613del
NM_001385253.1:c.1999_2001del	NP_001372182.1:p.Leu667del