Canonical Allele Identifier: CA1367098244

Gene: APPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57229317_57229318delinsCT , CM000665.2:g.57229317_57229318delinsCT	GRCh38
NC_000003.11:g.57263345_57263346delinsCT , CM000665.1:g.57263345_57263346delinsCT	GRCh37
NC_000003.10:g.57238385_57238386delinsCT	NCBI36
NG_047003.1:g.6581_6582delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288266.8:c.54+1380_54+1381delinsCT MANE Select	ENSP00000288266.3:n.54+1380_54+1381delinsCT
ENST00000650354.1:c.54+1380_54+1381delinsCT	ENSP00000498115.1:n.54+1380_54+1381delinsCT
ENST00000288266.7:c.54+1380_54+1381delinsCT	ENSP00000288266.3:n.54+1380_54+1381delinsCT
ENST00000444459.1:c.-52+1380_-52+1381delinsCT	ENSP00000406095.1:n.-52+1380_-52+1381delinsCT
ENST00000468342.1:n.99+1380_99+1381delinsCT
ENST00000482800.5:n.149+1380_149+1381delinsCT
ENST00000495803.5:c.54+1380_54+1381delinsCT	ENSP00000419644.1:n.54+1380_54+1381delinsCT
NM_012096.2:c.54+1380_54+1381delinsCT	NP_036228.1:n.54+1380_54+1381delinsCT
XM_011533583.1:c.-52+1380_-52+1381delinsCT	XP_011531885.1:n.-52+1380_-52+1381delinsCT
XM_011533583.3:c.-52+1380_-52+1381delinsCT	XP_011531885.1:n.-52+1380_-52+1381delinsCT
NM_012096.3:c.54+1380_54+1381delinsCT MANE Select	NP_036228.1:n.54+1380_54+1381delinsCT