Canonical Allele Identifier: CA908611312

Gene: APPL1

Linked Data

• dbSNP Id: rs1203891503
• gnomAD v3: 3-57229151-T-TGCCA
• gnomAD v4: 3-57229151-T-TGCCA
• MyVariant Identifiers: chr3:g.57263179_57263180insGCCA (hg19) ; chr3:g.57229151_57229152insGCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57229153_57229156dup , CM000665.2:g.57229153_57229156dup	GRCh38
NC_000003.11:g.57263181_57263184dup , CM000665.1:g.57263181_57263184dup	GRCh37
NC_000003.10:g.57238221_57238224dup	NCBI36
NG_047003.1:g.6417_6420dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288266.8:c.54+1216_54+1219dup MANE Select	ENSP00000288266.3:n.54+1216_54+1219dup
ENST00000650354.1:c.54+1216_54+1219dup	ENSP00000498115.1:n.54+1216_54+1219dup
ENST00000288266.7:c.54+1216_54+1219dup	ENSP00000288266.3:n.54+1216_54+1219dup
ENST00000444459.1:c.-52+1216_-52+1219dup	ENSP00000406095.1:n.-52+1216_-52+1219dup
ENST00000468342.1:n.99+1216_99+1219dup
ENST00000482800.5:n.149+1216_149+1219dup
ENST00000495803.5:c.54+1216_54+1219dup	ENSP00000419644.1:n.54+1216_54+1219dup
NM_012096.2:c.54+1216_54+1219dup	NP_036228.1:n.54+1216_54+1219dup
XM_011533583.1:c.-52+1216_-52+1219dup	XP_011531885.1:n.-52+1216_-52+1219dup
XM_011533583.3:c.-52+1216_-52+1219dup	XP_011531885.1:n.-52+1216_-52+1219dup
NM_012096.3:c.54+1216_54+1219dup MANE Select	NP_036228.1:n.54+1216_54+1219dup