Canonical Allele Identifier: CA9987078

Gene: APP

Linked Data

• dbSNP Id: rs760635626
• ExAC: 21:27269848 CAA / C
• gnomAD v2: 21-27269848-CAA-C
• gnomAD v4: 21-25897536-CAA-C
• MyVariant Identifiers: chr21:g.27269849_27269850del (hg19) ; chr21:g.25897537_25897538del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897538_25897539del , CM000683.2:g.25897538_25897539del	GRCh38
NC_000021.8:g.27269850_27269851del , CM000683.1:g.27269850_27269851del	GRCh37
NC_000021.7:g.26191721_26191722del	NCBI36
NG_007376.1:g.278283_278284del
NG_007376.2:g.278591_278592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2031+35_2031+36del
ENST00000707133.1:n.461+35_461+36del
ENST00000707134.1:n.730+35_730+36del
ENST00000346798.8:c.2064+35_2064+36del MANE Select	ENSP00000284981.4:n.2064+35_2064+36del
ENST00000346798.7:c.2064+35_2064+36del	ENSP00000284981.4:n.2064+35_2064+36del
ENST00000348990.9:c.1839+35_1839+36del	ENSP00000345463.5:n.1839+35_1839+36del
ENST00000354192.7:c.1671+35_1671+36del	ENSP00000346129.3:n.1671+35_1671+36del
ENST00000357903.7:c.2007+35_2007+36del	ENSP00000350578.3:n.2007+35_2007+36del
ENST00000358918.7:c.2010+35_2010+36del	ENSP00000351796.3:n.2010+35_2010+36del
ENST00000359726.7:c.1734+35_1734+36del	ENSP00000352760.4:n.1734+35_1734+36del
ENST00000439274.6:c.1896+35_1896+36del	ENSP00000398879.2:n.1896+35_1896+36del
ENST00000440126.7:c.1992+35_1992+36del	ENSP00000387483.2:n.1992+35_1992+36del
ENST00000464867.1:n.411+35_411+36del
NM_000484.3:c.2064+35_2064+36del	NP_000475.1:n.2064+35_2064+36del
NM_001136016.3:c.1992+35_1992+36del	NP_001129488.1:n.1992+35_1992+36del
NM_001136129.2:c.1671+35_1671+36del	NP_001129601.1:n.1671+35_1671+36del
NM_001136130.2:c.1896+35_1896+36del	NP_001129602.1:n.1896+35_1896+36del
NM_001136131.2:c.1734+35_1734+36del	NP_001129603.1:n.1734+35_1734+36del
NM_001204301.1:c.2010+35_2010+36del	NP_001191230.1:n.2010+35_2010+36del
NM_001204302.1:c.1953+35_1953+36del	NP_001191231.1:n.1953+35_1953+36del
NM_001204303.1:c.1785+35_1785+36del	NP_001191232.1:n.1785+35_1785+36del
NM_201413.2:c.2007+35_2007+36del	NP_958816.1:n.2007+35_2007+36del
NM_201414.2:c.1839+35_1839+36del	NP_958817.1:n.1839+35_1839+36del
NM_000484.4:c.2064+35_2064+36del MANE Select	NP_000475.1:n.2064+35_2064+36del
NM_001136129.3:c.1671+35_1671+36del	NP_001129601.1:n.1671+35_1671+36del
NM_001136130.3:c.1896+35_1896+36del	NP_001129602.1:n.1896+35_1896+36del
NM_001204301.2:c.2010+35_2010+36del	NP_001191230.1:n.2010+35_2010+36del
NM_001204302.2:c.1953+35_1953+36del	NP_001191231.1:n.1953+35_1953+36del
NM_001204303.2:c.1785+35_1785+36del	NP_001191232.1:n.1785+35_1785+36del
NM_201413.3:c.2007+35_2007+36del	NP_958816.1:n.2007+35_2007+36del
NM_201414.3:c.1839+35_1839+36del	NP_958817.1:n.1839+35_1839+36del
NM_001136131.3:c.1734+35_1734+36del	NP_001129603.1:n.1734+35_1734+36del
NM_001385253.1:c.1896+35_1896+36del	NP_001372182.1:n.1896+35_1896+36del