Canonical Allele Identifier: CA1048310818

Gene: APPL1

Linked Data

• dbSNP Id: rs2060672231
• gnomAD v3: 3-57229316-TCTTA-T
• gnomAD v4: 3-57229316-TCTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57229320_57229323del , CM000665.2:g.57229320_57229323del	GRCh38
NC_000003.11:g.57263348_57263351del , CM000665.1:g.57263348_57263351del	GRCh37
NC_000003.10:g.57238388_57238391del	NCBI36
NG_047003.1:g.6584_6587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288266.8:c.54+1383_54+1386del MANE Select	ENSP00000288266.3:n.54+1383_54+1386del
ENST00000650354.1:c.54+1383_54+1386del	ENSP00000498115.1:n.54+1383_54+1386del
ENST00000288266.7:c.54+1383_54+1386del	ENSP00000288266.3:n.54+1383_54+1386del
ENST00000444459.1:c.-52+1383_-52+1386del	ENSP00000406095.1:n.-52+1383_-52+1386del
ENST00000468342.1:n.99+1383_99+1386del
ENST00000482800.5:n.149+1383_149+1386del
ENST00000495803.5:c.54+1383_54+1386del	ENSP00000419644.1:n.54+1383_54+1386del
NM_012096.2:c.54+1383_54+1386del	NP_036228.1:n.54+1383_54+1386del
XM_011533583.1:c.-52+1383_-52+1386del	XP_011531885.1:n.-52+1383_-52+1386del
XM_011533583.3:c.-52+1383_-52+1386del	XP_011531885.1:n.-52+1383_-52+1386del
NM_012096.3:c.54+1383_54+1386del MANE Select	NP_036228.1:n.54+1383_54+1386del