Canonical Allele Identifier: CA748247876

Gene: APP

Linked Data

• dbSNP Id: rs1307228162
• gnomAD v3: 21-25897726-AAAT-A
• gnomAD v4: 21-25897726-AAAT-A
• MyVariant Identifiers: chr21:g.27270039_27270041del (hg19) ; chr21:g.25897727_25897729del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897732_25897734del , CM000683.2:g.25897732_25897734del	GRCh38
NC_000021.8:g.27270044_27270046del , CM000683.1:g.27270044_27270046del	GRCh37
NC_000021.7:g.26191915_26191917del	NCBI36
NG_007376.1:g.278092_278094del
NG_007376.2:g.278400_278402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.1931-56_1931-54del
ENST00000707133.1:n.361-56_361-54del
ENST00000707134.1:n.630-56_630-54del
ENST00000346798.8:c.1964-56_1964-54del MANE Select	ENSP00000284981.4:n.1964-56_1964-54del
ENST00000346798.7:c.1964-56_1964-54del	ENSP00000284981.4:n.1964-56_1964-54del
ENST00000348990.9:c.1739-56_1739-54del	ENSP00000345463.5:n.1739-56_1739-54del
ENST00000354192.7:c.1571-56_1571-54del	ENSP00000346129.3:n.1571-56_1571-54del
ENST00000357903.7:c.1907-56_1907-54del	ENSP00000350578.3:n.1907-56_1907-54del
ENST00000358918.7:c.1910-56_1910-54del	ENSP00000351796.3:n.1910-56_1910-54del
ENST00000359726.7:c.1634-56_1634-54del	ENSP00000352760.4:n.1634-56_1634-54del
ENST00000439274.6:c.1796-56_1796-54del	ENSP00000398879.2:n.1796-56_1796-54del
ENST00000440126.7:c.1892-56_1892-54del	ENSP00000387483.2:n.1892-56_1892-54del
ENST00000464867.1:n.255_257del
NM_000484.3:c.1964-56_1964-54del	NP_000475.1:n.1964-56_1964-54del
NM_001136016.3:c.1892-56_1892-54del	NP_001129488.1:n.1892-56_1892-54del
NM_001136129.2:c.1571-56_1571-54del	NP_001129601.1:n.1571-56_1571-54del
NM_001136130.2:c.1796-56_1796-54del	NP_001129602.1:n.1796-56_1796-54del
NM_001136131.2:c.1634-56_1634-54del	NP_001129603.1:n.1634-56_1634-54del
NM_001204301.1:c.1910-56_1910-54del	NP_001191230.1:n.1910-56_1910-54del
NM_001204302.1:c.1853-56_1853-54del	NP_001191231.1:n.1853-56_1853-54del
NM_001204303.1:c.1685-56_1685-54del	NP_001191232.1:n.1685-56_1685-54del
NM_201413.2:c.1907-56_1907-54del	NP_958816.1:n.1907-56_1907-54del
NM_201414.2:c.1739-56_1739-54del	NP_958817.1:n.1739-56_1739-54del
NM_000484.4:c.1964-56_1964-54del MANE Select	NP_000475.1:n.1964-56_1964-54del
NM_001136129.3:c.1571-56_1571-54del	NP_001129601.1:n.1571-56_1571-54del
NM_001136130.3:c.1796-56_1796-54del	NP_001129602.1:n.1796-56_1796-54del
NM_001204301.2:c.1910-56_1910-54del	NP_001191230.1:n.1910-56_1910-54del
NM_001204302.2:c.1853-56_1853-54del	NP_001191231.1:n.1853-56_1853-54del
NM_001204303.2:c.1685-56_1685-54del	NP_001191232.1:n.1685-56_1685-54del
NM_201413.3:c.1907-56_1907-54del	NP_958816.1:n.1907-56_1907-54del
NM_201414.3:c.1739-56_1739-54del	NP_958817.1:n.1739-56_1739-54del
NM_001136131.3:c.1634-56_1634-54del	NP_001129603.1:n.1634-56_1634-54del
NM_001385253.1:c.1796-56_1796-54del	NP_001372182.1:n.1796-56_1796-54del