Canonical Allele Identifier: CA1367098240

Gene: APPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57229314_57229317delinsTCTC , CM000665.2:g.57229314_57229317delinsTCTC	GRCh38
NC_000003.11:g.57263342_57263345delinsTCTC , CM000665.1:g.57263342_57263345delinsTCTC	GRCh37
NC_000003.10:g.57238382_57238385delinsTCTC	NCBI36
NG_047003.1:g.6578_6581delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288266.8:c.54+1377_54+1380delinsTCTC MANE Select	ENSP00000288266.3:n.54+1377_54+1380delinsTCTC
ENST00000650354.1:c.54+1377_54+1380delinsTCTC	ENSP00000498115.1:n.54+1377_54+1380delinsTCTC
ENST00000288266.7:c.54+1377_54+1380delinsTCTC	ENSP00000288266.3:n.54+1377_54+1380delinsTCTC
ENST00000444459.1:c.-52+1377_-52+1380delinsTCTC	ENSP00000406095.1:n.-52+1377_-52+1380delinsTCTC
ENST00000468342.1:n.99+1377_99+1380delinsTCTC
ENST00000482800.5:n.149+1377_149+1380delinsTCTC
ENST00000495803.5:c.54+1377_54+1380delinsTCTC	ENSP00000419644.1:n.54+1377_54+1380delinsTCTC
NM_012096.2:c.54+1377_54+1380delinsTCTC	NP_036228.1:n.54+1377_54+1380delinsTCTC
XM_011533583.1:c.-52+1377_-52+1380delinsTCTC	XP_011531885.1:n.-52+1377_-52+1380delinsTCTC
XM_011533583.3:c.-52+1377_-52+1380delinsTCTC	XP_011531885.1:n.-52+1377_-52+1380delinsTCTC
NM_012096.3:c.54+1377_54+1380delinsTCTC MANE Select	NP_036228.1:n.54+1377_54+1380delinsTCTC