Canonical Allele Identifier: CA637163618

Gene: APP

Linked Data

• dbSNP Id: rs1168702794
• gnomAD v2: 21-27269674-CCTTGGCCTCCCAAAGTGCTGGGATTACAGG-C
• gnomAD v3: 21-25897362-CCTTGGCCTCCCAAAGTGCTGGGATTACAGG-C
• gnomAD v4: 21-25897362-CCTTGGCCTCCCAAAGTGCTGGGATTACAGG-C
• MyVariant Identifiers: chr21:g.27269675_27269704del (hg19) ; chr21:g.25897363_25897392del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897367_25897396del , CM000683.2:g.25897367_25897396del	GRCh38
NC_000021.8:g.27269679_27269708del , CM000683.1:g.27269679_27269708del	GRCh37
NC_000021.7:g.26191550_26191579del	NCBI36
NG_007376.1:g.278429_278458del
NG_007376.2:g.278737_278766del

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2031+181_2031+210del
ENST00000707133.1:n.461+181_461+210del
ENST00000707134.1:n.730+181_730+210del
ENST00000346798.8:c.2064+181_2064+210del MANE Select	ENSP00000284981.4:n.2064+181_2064+210del
ENST00000346798.7:c.2064+181_2064+210del	ENSP00000284981.4:n.2064+181_2064+210del
ENST00000348990.9:c.1839+181_1839+210del	ENSP00000345463.5:n.1839+181_1839+210del
ENST00000354192.7:c.1671+181_1671+210del	ENSP00000346129.3:n.1671+181_1671+210del
ENST00000357903.7:c.2007+181_2007+210del	ENSP00000350578.3:n.2007+181_2007+210del
ENST00000358918.7:c.2010+181_2010+210del	ENSP00000351796.3:n.2010+181_2010+210del
ENST00000359726.7:c.1734+181_1734+210del	ENSP00000352760.4:n.1734+181_1734+210del
ENST00000439274.6:c.1896+181_1896+210del	ENSP00000398879.2:n.1896+181_1896+210del
ENST00000440126.7:c.1992+181_1992+210del	ENSP00000387483.2:n.1992+181_1992+210del
ENST00000464867.1:n.411+181_411+210del
NM_000484.3:c.2064+181_2064+210del	NP_000475.1:n.2064+181_2064+210del
NM_001136016.3:c.1992+181_1992+210del	NP_001129488.1:n.1992+181_1992+210del
NM_001136129.2:c.1671+181_1671+210del	NP_001129601.1:n.1671+181_1671+210del
NM_001136130.2:c.1896+181_1896+210del	NP_001129602.1:n.1896+181_1896+210del
NM_001136131.2:c.1734+181_1734+210del	NP_001129603.1:n.1734+181_1734+210del
NM_001204301.1:c.2010+181_2010+210del	NP_001191230.1:n.2010+181_2010+210del
NM_001204302.1:c.1953+181_1953+210del	NP_001191231.1:n.1953+181_1953+210del
NM_001204303.1:c.1785+181_1785+210del	NP_001191232.1:n.1785+181_1785+210del
NM_201413.2:c.2007+181_2007+210del	NP_958816.1:n.2007+181_2007+210del
NM_201414.2:c.1839+181_1839+210del	NP_958817.1:n.1839+181_1839+210del
NM_000484.4:c.2064+181_2064+210del MANE Select	NP_000475.1:n.2064+181_2064+210del
NM_001136129.3:c.1671+181_1671+210del	NP_001129601.1:n.1671+181_1671+210del
NM_001136130.3:c.1896+181_1896+210del	NP_001129602.1:n.1896+181_1896+210del
NM_001204301.2:c.2010+181_2010+210del	NP_001191230.1:n.2010+181_2010+210del
NM_001204302.2:c.1953+181_1953+210del	NP_001191231.1:n.1953+181_1953+210del
NM_001204303.2:c.1785+181_1785+210del	NP_001191232.1:n.1785+181_1785+210del
NM_201413.3:c.2007+181_2007+210del	NP_958816.1:n.2007+181_2007+210del
NM_201414.3:c.1839+181_1839+210del	NP_958817.1:n.1839+181_1839+210del
NM_001136131.3:c.1734+181_1734+210del	NP_001129603.1:n.1734+181_1734+210del
NM_001385253.1:c.1896+181_1896+210del	NP_001372182.1:n.1896+181_1896+210del