Canonical Allele Identifier: CA1085049772

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 1009953
• ClinVar RCV Id: RCV001307517
• dbSNP Id: rs1758356210
• gnomAD v3: 5-179833675-TC-T
• gnomAD v4: 5-179833675-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833677del , CM000667.2:g.179833677del	GRCh38
NC_000005.9:g.179260677del , CM000667.1:g.179260677del	GRCh37
NC_000005.8:g.179193283del	NCBI36
NG_011342.1:g.32290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1060del MANE Select	ENSP00000374455.4:p.Gln354SerfsTer24
ENST00000360718.5:c.808del	ENSP00000353944.5:p.Gln270SerfsTer24
ENST00000389805.8:c.1060del	ENSP00000374455.4:p.Gln354SerfsTer24
ENST00000510187.5:c.950+450del	ENSP00000424477.1:n.950+450del
NM_001142298.1:c.808del	NP_001135770.1:p.Gln270SerfsTer24
NM_001142299.1:c.808del	NP_001135771.1:p.Gln270SerfsTer24
NM_003900.4:c.1060del	NP_003891.1:p.Gln354SerfsTer24
XM_017010010.1:c.808del	XP_016865499.1:p.Gln270SerfsTer24
NM_003900.5:c.1060del MANE Select	NP_003891.1:p.Gln354SerfsTer24
NM_001142298.2:c.808del	NP_001135770.1:p.Gln270SerfsTer24
NM_001142299.2:c.808del	NP_001135771.1:p.Gln270SerfsTer24