Canonical Allele Identifier: CA1048310817

Gene: APPL1

Linked Data

• dbSNP Id: rs2060672190
• gnomAD v3: 3-57229314-TCTC-T
• gnomAD v4: 3-57229314-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57229315_57229317del , CM000665.2:g.57229315_57229317del	GRCh38
NC_000003.11:g.57263343_57263345del , CM000665.1:g.57263343_57263345del	GRCh37
NC_000003.10:g.57238383_57238385del	NCBI36
NG_047003.1:g.6579_6581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288266.8:c.54+1378_54+1380del MANE Select	ENSP00000288266.3:n.54+1378_54+1380del
ENST00000650354.1:c.54+1378_54+1380del	ENSP00000498115.1:n.54+1378_54+1380del
ENST00000288266.7:c.54+1378_54+1380del	ENSP00000288266.3:n.54+1378_54+1380del
ENST00000444459.1:c.-52+1378_-52+1380del	ENSP00000406095.1:n.-52+1378_-52+1380del
ENST00000468342.1:n.99+1378_99+1380del
ENST00000482800.5:n.149+1378_149+1380del
ENST00000495803.5:c.54+1378_54+1380del	ENSP00000419644.1:n.54+1378_54+1380del
NM_012096.2:c.54+1378_54+1380del	NP_036228.1:n.54+1378_54+1380del
XM_011533583.1:c.-52+1378_-52+1380del	XP_011531885.1:n.-52+1378_-52+1380del
XM_011533583.3:c.-52+1378_-52+1380del	XP_011531885.1:n.-52+1378_-52+1380del
NM_012096.3:c.54+1378_54+1380del MANE Select	NP_036228.1:n.54+1378_54+1380del