Canonical Allele Identifier: CA1139659292

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 976342
• ClinVar RCV Id: RCV001253614
• dbSNP Id: rs1758359961

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833745del , CM000667.2:g.179833745del	GRCh38
NC_000005.9:g.179260745del , CM000667.1:g.179260745del	GRCh37
NC_000005.8:g.179193351del	NCBI36
NG_011342.1:g.32358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1128del MANE Select	ENSP00000374455.4:p.Leu377Ter
ENST00000360718.5:c.876del	ENSP00000353944.5:p.Leu293Ter
ENST00000389805.8:c.1128del	ENSP00000374455.4:p.Leu377Ter
ENST00000510187.5:c.950+518del	ENSP00000424477.1:n.950+518del
NM_001142298.1:c.876del	NP_001135770.1:p.Leu293Ter
NM_001142299.1:c.876del	NP_001135771.1:p.Leu293Ter
NM_003900.4:c.1128del	NP_003891.1:p.Leu377Ter
XM_017010010.1:c.876del	XP_016865499.1:p.Leu293Ter
NM_003900.5:c.1128del MANE Select	NP_003891.1:p.Leu377Ter
NM_001142298.2:c.876del	NP_001135770.1:p.Leu293Ter
NM_001142299.2:c.876del	NP_001135771.1:p.Leu293Ter