Canonical Allele Identifier: CA9987112

Gene: APP

Linked Data

• dbSNP Id: rs776199943
• ExAC: 21:27270001 AT / A
• gnomAD v2: 21-27270001-AT-A
• gnomAD v4: 21-25897689-AT-A
• MyVariant Identifiers: chr21:g.27270002del (hg19) ; chr21:g.25897690del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897691del , CM000683.2:g.25897691del	GRCh38
NC_000021.8:g.27270003del , CM000683.1:g.27270003del	GRCh37
NC_000021.7:g.26191874del	NCBI36
NG_007376.1:g.278131del
NG_007376.2:g.278439del

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.1931-17del
ENST00000707133.1:n.361-17del
ENST00000707134.1:n.630-17del
ENST00000346798.8:c.1964-17del MANE Select	ENSP00000284981.4:n.1964-17del
ENST00000346798.7:c.1964-17del	ENSP00000284981.4:n.1964-17del
ENST00000348990.9:c.1739-17del	ENSP00000345463.5:n.1739-17del
ENST00000354192.7:c.1571-17del	ENSP00000346129.3:n.1571-17del
ENST00000357903.7:c.1907-17del	ENSP00000350578.3:n.1907-17del
ENST00000358918.7:c.1910-17del	ENSP00000351796.3:n.1910-17del
ENST00000359726.7:c.1634-17del	ENSP00000352760.4:n.1634-17del
ENST00000439274.6:c.1796-17del	ENSP00000398879.2:n.1796-17del
ENST00000440126.7:c.1892-17del	ENSP00000387483.2:n.1892-17del
ENST00000464867.1:n.294del
NM_000484.3:c.1964-17del	NP_000475.1:n.1964-17del
NM_001136016.3:c.1892-17del	NP_001129488.1:n.1892-17del
NM_001136129.2:c.1571-17del	NP_001129601.1:n.1571-17del
NM_001136130.2:c.1796-17del	NP_001129602.1:n.1796-17del
NM_001136131.2:c.1634-17del	NP_001129603.1:n.1634-17del
NM_001204301.1:c.1910-17del	NP_001191230.1:n.1910-17del
NM_001204302.1:c.1853-17del	NP_001191231.1:n.1853-17del
NM_001204303.1:c.1685-17del	NP_001191232.1:n.1685-17del
NM_201413.2:c.1907-17del	NP_958816.1:n.1907-17del
NM_201414.2:c.1739-17del	NP_958817.1:n.1739-17del
NM_000484.4:c.1964-17del MANE Select	NP_000475.1:n.1964-17del
NM_001136129.3:c.1571-17del	NP_001129601.1:n.1571-17del
NM_001136130.3:c.1796-17del	NP_001129602.1:n.1796-17del
NM_001204301.2:c.1910-17del	NP_001191230.1:n.1910-17del
NM_001204302.2:c.1853-17del	NP_001191231.1:n.1853-17del
NM_001204303.2:c.1685-17del	NP_001191232.1:n.1685-17del
NM_201413.3:c.1907-17del	NP_958816.1:n.1907-17del
NM_201414.3:c.1739-17del	NP_958817.1:n.1739-17del
NM_001136131.3:c.1634-17del	NP_001129603.1:n.1634-17del
NM_001385253.1:c.1796-17del	NP_001372182.1:n.1796-17del