Canonical Allele Identifier: CA1085049721

Gene: SQSTM1

Linked Data

• dbSNP Id: rs1758345519
• gnomAD v3: 5-179833504-A-ACTGT
• gnomAD v4: 5-179833504-A-ACTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833508_179833511dup , CM000667.2:g.179833508_179833511dup	GRCh38
NC_000005.9:g.179260508_179260511dup , CM000667.1:g.179260508_179260511dup	GRCh37
NC_000005.8:g.179193114_179193117dup	NCBI36
NG_011342.1:g.32121_32124dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.970-79_970-76dup MANE Select	ENSP00000374455.4:n.970-79_970-76dup
ENST00000360718.5:c.718-79_718-76dup	ENSP00000353944.5:n.718-79_718-76dup
ENST00000389805.8:c.970-79_970-76dup	ENSP00000374455.4:n.970-79_970-76dup
ENST00000510187.5:c.950+281_950+284dup	ENSP00000424477.1:n.950+281_950+284dup
NM_001142298.1:c.718-79_718-76dup	NP_001135770.1:n.718-79_718-76dup
NM_001142299.1:c.718-79_718-76dup	NP_001135771.1:n.718-79_718-76dup
NM_003900.4:c.970-79_970-76dup	NP_003891.1:n.970-79_970-76dup
XM_017010010.1:c.718-79_718-76dup	XP_016865499.1:n.718-79_718-76dup
NM_003900.5:c.970-79_970-76dup MANE Select	NP_003891.1:n.970-79_970-76dup
NM_001142298.2:c.718-79_718-76dup	NP_001135770.1:n.718-79_718-76dup
NM_001142299.2:c.718-79_718-76dup	NP_001135771.1:n.718-79_718-76dup