Canonical Allele Identifier: CA637162687

Gene: APP

Linked Data

• dbSNP Id: rs1372670656
• gnomAD v2: 21-27263988-CAT-C
• gnomAD v4: 21-25891676-CAT-C
• MyVariant Identifiers: chr21:g.27263989_27263990del (hg19) ; chr21:g.25891677_25891678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891678_25891679del , CM000683.2:g.25891678_25891679del	GRCh38
NC_000021.8:g.27263990_27263991del , CM000683.1:g.27263990_27263991del	GRCh37
NC_000021.7:g.26185861_26185862del	NCBI36
NG_007376.1:g.284143_284144del
NG_007376.2:g.284451_284452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2178+44_2178+45del
ENST00000707133.1:n.608+44_608+45del
ENST00000707134.1:n.877+44_877+45del
ENST00000346798.8:c.2211+44_2211+45del MANE Select	ENSP00000284981.4:n.2211+44_2211+45del
ENST00000346798.7:c.2211+44_2211+45del	ENSP00000284981.4:n.2211+44_2211+45del
ENST00000348990.9:c.1986+44_1986+45del	ENSP00000345463.5:n.1986+44_1986+45del
ENST00000354192.7:c.1818+44_1818+45del	ENSP00000346129.3:n.1818+44_1818+45del
ENST00000357903.7:c.2154+44_2154+45del	ENSP00000350578.3:n.2154+44_2154+45del
ENST00000358918.7:c.2157+44_2157+45del	ENSP00000351796.3:n.2157+44_2157+45del
ENST00000359726.7:c.1881+44_1881+45del	ENSP00000352760.4:n.1881+44_1881+45del
ENST00000439274.6:c.2043+44_2043+45del	ENSP00000398879.2:n.2043+44_2043+45del
ENST00000440126.7:c.2139+44_2139+45del	ENSP00000387483.2:n.2139+44_2139+45del
ENST00000464867.1:n.558+44_558+45del
NM_000484.3:c.2211+44_2211+45del	NP_000475.1:n.2211+44_2211+45del
NM_001136016.3:c.2139+44_2139+45del	NP_001129488.1:n.2139+44_2139+45del
NM_001136129.2:c.1818+44_1818+45del	NP_001129601.1:n.1818+44_1818+45del
NM_001136130.2:c.2043+44_2043+45del	NP_001129602.1:n.2043+44_2043+45del
NM_001136131.2:c.1881+44_1881+45del	NP_001129603.1:n.1881+44_1881+45del
NM_001204301.1:c.2157+44_2157+45del	NP_001191230.1:n.2157+44_2157+45del
NM_001204302.1:c.2100+44_2100+45del	NP_001191231.1:n.2100+44_2100+45del
NM_001204303.1:c.1932+44_1932+45del	NP_001191232.1:n.1932+44_1932+45del
NM_201413.2:c.2154+44_2154+45del	NP_958816.1:n.2154+44_2154+45del
NM_201414.2:c.1986+44_1986+45del	NP_958817.1:n.1986+44_1986+45del
NM_000484.4:c.2211+44_2211+45del MANE Select	NP_000475.1:n.2211+44_2211+45del
NM_001136129.3:c.1818+44_1818+45del	NP_001129601.1:n.1818+44_1818+45del
NM_001136130.3:c.2043+44_2043+45del	NP_001129602.1:n.2043+44_2043+45del
NM_001204301.2:c.2157+44_2157+45del	NP_001191230.1:n.2157+44_2157+45del
NM_001204302.2:c.2100+44_2100+45del	NP_001191231.1:n.2100+44_2100+45del
NM_001204303.2:c.1932+44_1932+45del	NP_001191232.1:n.1932+44_1932+45del
NM_201413.3:c.2154+44_2154+45del	NP_958816.1:n.2154+44_2154+45del
NM_201414.3:c.1986+44_1986+45del	NP_958817.1:n.1986+44_1986+45del
NM_001136131.3:c.1881+44_1881+45del	NP_001129603.1:n.1881+44_1881+45del
NM_001385253.1:c.2043+44_2043+45del	NP_001372182.1:n.2043+44_2043+45del