Canonical Allele Identifier: CA1367098275

Gene: APPL1

Linked Data

• dbSNP Id: rs2060672682

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57229357_57229358del , CM000665.2:g.57229357_57229358del	GRCh38
NC_000003.11:g.57263385_57263386del , CM000665.1:g.57263385_57263386del	GRCh37
NC_000003.10:g.57238425_57238426del	NCBI36
NG_047003.1:g.6621_6622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288266.8:c.54+1420_54+1421del MANE Select	ENSP00000288266.3:n.54+1420_54+1421del
ENST00000650354.1:c.54+1420_54+1421del	ENSP00000498115.1:n.54+1420_54+1421del
ENST00000288266.7:c.54+1420_54+1421del	ENSP00000288266.3:n.54+1420_54+1421del
ENST00000444459.1:c.-51-1357_-51-1356del	ENSP00000406095.1:n.-51-1357_-51-1356del
ENST00000468342.1:n.99+1420_99+1421del
ENST00000482800.5:n.149+1420_149+1421del
ENST00000495803.5:c.54+1420_54+1421del	ENSP00000419644.1:n.54+1420_54+1421del
NM_012096.2:c.54+1420_54+1421del	NP_036228.1:n.54+1420_54+1421del
XM_011533583.1:c.-51-1357_-51-1356del	XP_011531885.1:n.-51-1357_-51-1356del
XM_011533583.3:c.-51-1357_-51-1356del	XP_011531885.1:n.-51-1357_-51-1356del
NM_012096.3:c.54+1420_54+1421del MANE Select	NP_036228.1:n.54+1420_54+1421del