Canonical Allele Identifier: CA133109814

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 1270924
• ClinVar RCV Id: RCV001680445
• dbSNP Id: rs61480353
• gnomAD v2: 5-179260865-CAGA-C
• gnomAD v3: 5-179833865-CAGA-C
• gnomAD v4: 5-179833865-CAGA-C
• COSMIC: COSN17142229
• MyVariant Identifiers: chr5:g.179260866_179260868del (hg19) ; chr5:g.179833866_179833868del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833868_179833870del , CM000667.2:g.179833868_179833870del	GRCh38
NC_000005.9:g.179260868_179260870del , CM000667.1:g.179260868_179260870del	GRCh37
NC_000005.8:g.179193474_179193476del	NCBI36
NG_011342.1:g.32481_32483del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1165+86_1165+88del MANE Select	ENSP00000374455.4:n.1165+86_1165+88del
ENST00000360718.5:c.913+86_913+88del	ENSP00000353944.5:n.913+86_913+88del
ENST00000389805.8:c.1165+86_1165+88del	ENSP00000374455.4:n.1165+86_1165+88del
ENST00000510187.5:c.950+641_950+643del	ENSP00000424477.1:n.950+641_950+643del
NM_001142298.1:c.913+86_913+88del	NP_001135770.1:n.913+86_913+88del
NM_001142299.1:c.913+86_913+88del	NP_001135771.1:n.913+86_913+88del
NM_003900.4:c.1165+86_1165+88del	NP_003891.1:n.1165+86_1165+88del
XM_017010010.1:c.913+86_913+88del	XP_016865499.1:n.913+86_913+88del
NM_003900.5:c.1165+86_1165+88del MANE Select	NP_003891.1:n.1165+86_1165+88del
NM_001142298.2:c.913+86_913+88del	NP_001135770.1:n.913+86_913+88del
NM_001142299.2:c.913+86_913+88del	NP_001135771.1:n.913+86_913+88del