Canonical Allele Identifier: CA2578507792

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 1903345
• ClinVar RCV Id: RCV002586274
• gnomAD v4: 5-179833619-AGAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833625_179833627del , CM000667.2:g.179833625_179833627del	GRCh38
NC_000005.9:g.179260625_179260627del , CM000667.1:g.179260625_179260627del	GRCh37
NC_000005.8:g.179193231_179193233del	NCBI36
NG_011342.1:g.32238_32240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1008_1010del MANE Select	ENSP00000374455.4:p.Asp337del
ENST00000360718.5:c.756_758del	ENSP00000353944.5:p.Asp253del
ENST00000389805.8:c.1008_1010del	ENSP00000374455.4:p.Asp337del
ENST00000510187.5:c.950+398_950+400del	ENSP00000424477.1:n.950+398_950+400del
NM_001142298.1:c.756_758del	NP_001135770.1:p.Asp253del
NM_001142299.1:c.756_758del	NP_001135771.1:p.Asp253del
NM_003900.4:c.1008_1010del	NP_003891.1:p.Asp337del
XM_017010010.1:c.756_758del	XP_016865499.1:p.Asp253del
NM_003900.5:c.1008_1010del MANE Select	NP_003891.1:p.Asp337del
NM_001142298.2:c.756_758del	NP_001135770.1:p.Asp253del
NM_001142299.2:c.756_758del	NP_001135771.1:p.Asp253del