Canonical Allele Identifier: CA133109801

Gene: SQSTM1

Linked Data

• dbSNP Id: rs887669410
• gnomAD v2: 5-179260847-TGATTTCAGCGACACAAACAGAAG-T
• gnomAD v3: 5-179833847-TGATTTCAGCGACACAAACAGAAG-T
• gnomAD v4: 5-179833847-TGATTTCAGCGACACAAACAGAAG-T
• MyVariant Identifiers: chr5:g.179260848_179260870del (hg19) ; chr5:g.179833848_179833870del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833851_179833873del , CM000667.2:g.179833851_179833873del	GRCh38
NC_000005.9:g.179260851_179260873del , CM000667.1:g.179260851_179260873del	GRCh37
NC_000005.8:g.179193457_179193479del	NCBI36
NG_011342.1:g.32464_32486del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1165+69_1165+91del MANE Select	ENSP00000374455.4:n.1165+69_1165+91del
ENST00000360718.5:c.913+69_913+91del	ENSP00000353944.5:n.913+69_913+91del
ENST00000389805.8:c.1165+69_1165+91del	ENSP00000374455.4:n.1165+69_1165+91del
ENST00000510187.5:c.950+624_950+646del	ENSP00000424477.1:n.950+624_950+646del
NM_001142298.1:c.913+69_913+91del	NP_001135770.1:n.913+69_913+91del
NM_001142299.1:c.913+69_913+91del	NP_001135771.1:n.913+69_913+91del
NM_003900.4:c.1165+69_1165+91del	NP_003891.1:n.1165+69_1165+91del
XM_017010010.1:c.913+69_913+91del	XP_016865499.1:n.913+69_913+91del
NM_003900.5:c.1165+69_1165+91del MANE Select	NP_003891.1:n.1165+69_1165+91del
NM_001142298.2:c.913+69_913+91del	NP_001135770.1:n.913+69_913+91del
NM_001142299.2:c.913+69_913+91del	NP_001135771.1:n.913+69_913+91del