Canonical Allele Identifier: CA1367098283

Gene: APPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57229374_57229375delinsTG , CM000665.2:g.57229374_57229375delinsTG	GRCh38
NC_000003.11:g.57263402_57263403delinsTG , CM000665.1:g.57263402_57263403delinsTG	GRCh37
NC_000003.10:g.57238442_57238443delinsTG	NCBI36
NG_047003.1:g.6638_6639delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288266.8:c.54+1437_54+1438delinsTG MANE Select	ENSP00000288266.3:n.54+1437_54+1438delinsTG
ENST00000650354.1:c.54+1437_54+1438delinsTG	ENSP00000498115.1:n.54+1437_54+1438delinsTG
ENST00000288266.7:c.54+1437_54+1438delinsTG	ENSP00000288266.3:n.54+1437_54+1438delinsTG
ENST00000444459.1:c.-51-1340_-51-1339delinsTG	ENSP00000406095.1:n.-51-1340_-51-1339delinsTG
ENST00000468342.1:n.99+1437_99+1438delinsTG
ENST00000482800.5:n.149+1437_149+1438delinsTG
ENST00000495803.5:c.54+1437_54+1438delinsTG	ENSP00000419644.1:n.54+1437_54+1438delinsTG
NM_012096.2:c.54+1437_54+1438delinsTG	NP_036228.1:n.54+1437_54+1438delinsTG
XM_011533583.1:c.-51-1340_-51-1339delinsTG	XP_011531885.1:n.-51-1340_-51-1339delinsTG
XM_011533583.3:c.-51-1340_-51-1339delinsTG	XP_011531885.1:n.-51-1340_-51-1339delinsTG
NM_012096.3:c.54+1437_54+1438delinsTG MANE Select	NP_036228.1:n.54+1437_54+1438delinsTG