Canonical Allele Identifier: CA1367098273

Gene: APPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57229355_57229357delinsTAA , CM000665.2:g.57229355_57229357delinsTAA	GRCh38
NC_000003.11:g.57263383_57263385delinsTAA , CM000665.1:g.57263383_57263385delinsTAA	GRCh37
NC_000003.10:g.57238423_57238425delinsTAA	NCBI36
NG_047003.1:g.6619_6621delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288266.8:c.54+1418_54+1420delinsTAA MANE Select	ENSP00000288266.3:n.54+1418_54+1420delinsTAA
ENST00000650354.1:c.54+1418_54+1420delinsTAA	ENSP00000498115.1:n.54+1418_54+1420delinsTAA
ENST00000288266.7:c.54+1418_54+1420delinsTAA	ENSP00000288266.3:n.54+1418_54+1420delinsTAA
ENST00000444459.1:c.-51-1359_-51-1357delinsTAA	ENSP00000406095.1:n.-51-1359_-51-1357delinsTAA
ENST00000468342.1:n.99+1418_99+1420delinsTAA
ENST00000482800.5:n.149+1418_149+1420delinsTAA
ENST00000495803.5:c.54+1418_54+1420delinsTAA	ENSP00000419644.1:n.54+1418_54+1420delinsTAA
NM_012096.2:c.54+1418_54+1420delinsTAA	NP_036228.1:n.54+1418_54+1420delinsTAA
XM_011533583.1:c.-51-1359_-51-1357delinsTAA	XP_011531885.1:n.-51-1359_-51-1357delinsTAA
XM_011533583.3:c.-51-1359_-51-1357delinsTAA	XP_011531885.1:n.-51-1359_-51-1357delinsTAA
NM_012096.3:c.54+1418_54+1420delinsTAA MANE Select	NP_036228.1:n.54+1418_54+1420delinsTAA