Canonical Allele Identifier: CA1367098242

Gene: APPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57229316_57229320delinsTCTTA , CM000665.2:g.57229316_57229320delinsTCTTA	GRCh38
NC_000003.11:g.57263344_57263348delinsTCTTA , CM000665.1:g.57263344_57263348delinsTCTTA	GRCh37
NC_000003.10:g.57238384_57238388delinsTCTTA	NCBI36
NG_047003.1:g.6580_6584delinsTCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288266.8:c.54+1379_54+1383delinsTCTTA MANE Select	ENSP00000288266.3:n.54+1379_54+1383delinsTCTTA
ENST00000650354.1:c.54+1379_54+1383delinsTCTTA	ENSP00000498115.1:n.54+1379_54+1383delinsTCTTA
ENST00000288266.7:c.54+1379_54+1383delinsTCTTA	ENSP00000288266.3:n.54+1379_54+1383delinsTCTTA
ENST00000444459.1:c.-52+1379_-52+1383delinsTCTTA	ENSP00000406095.1:n.-52+1379_-52+1383delinsTCTTA
ENST00000468342.1:n.99+1379_99+1383delinsTCTTA
ENST00000482800.5:n.149+1379_149+1383delinsTCTTA
ENST00000495803.5:c.54+1379_54+1383delinsTCTTA	ENSP00000419644.1:n.54+1379_54+1383delinsTCTTA
NM_012096.2:c.54+1379_54+1383delinsTCTTA	NP_036228.1:n.54+1379_54+1383delinsTCTTA
XM_011533583.1:c.-52+1379_-52+1383delinsTCTTA	XP_011531885.1:n.-52+1379_-52+1383delinsTCTTA
XM_011533583.3:c.-52+1379_-52+1383delinsTCTTA	XP_011531885.1:n.-52+1379_-52+1383delinsTCTTA
NM_012096.3:c.54+1379_54+1383delinsTCTTA MANE Select	NP_036228.1:n.54+1379_54+1383delinsTCTTA