Canonical Allele Identifier: CA3600771

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 542159
• ClinVar RCV Id: RCV000652542
• dbSNP Id: rs758377403
• ExAC: 5:179260585 AG / A
• gnomAD v2: 5-179260585-AG-A
• gnomAD v3: 5-179833585-AG-A
• gnomAD v4: 5-179833585-AG-A
• MyVariant Identifiers: chr5:g.179260587del (hg19) ; chr5:g.179260586del (hg19) ; chr5:g.179833587del (hg38) ; chr5:g.179833586del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833587del , CM000667.2:g.179833587del	GRCh38
NC_000005.9:g.179260587del , CM000667.1:g.179260587del	GRCh37
NC_000005.8:g.179193193del	NCBI36
NG_011342.1:g.32200del

Transcript Alleles

HGVS	Amino-acid change
ENST00000389805.9:c.970del
ENST00000360718.5:c.718del
ENST00000389805.8:c.970del
ENST00000510187.5:c.950+360del	ENSP00000424477.1:n.950+360del
NM_001142298.1:c.718del
NM_001142299.1:c.718del
NM_003900.4:c.970del
XM_017010010.1:c.718del
NM_003900.5:c.970del
NM_001142298.2:c.718del
NM_001142299.2:c.718del