Canonical Allele Identifier: CA808343981

Gene: SQSTM1

Linked Data

• dbSNP Id: rs1331266371
• gnomAD v3: 5-179833843-CCT-C
• gnomAD v4: 5-179833843-CCT-C
• MyVariant Identifiers: chr5:g.179260844_179260845del (hg19) ; chr5:g.179833844_179833845del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833846_179833847del , CM000667.2:g.179833846_179833847del	GRCh38
NC_000005.9:g.179260846_179260847del , CM000667.1:g.179260846_179260847del	GRCh37
NC_000005.8:g.179193452_179193453del	NCBI36
NG_011342.1:g.32459_32460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1165+64_1165+65del MANE Select	ENSP00000374455.4:n.1165+64_1165+65del
ENST00000360718.5:c.913+64_913+65del	ENSP00000353944.5:n.913+64_913+65del
ENST00000389805.8:c.1165+64_1165+65del	ENSP00000374455.4:n.1165+64_1165+65del
ENST00000510187.5:c.950+619_950+620del	ENSP00000424477.1:n.950+619_950+620del
NM_001142298.1:c.913+64_913+65del	NP_001135770.1:n.913+64_913+65del
NM_001142299.1:c.913+64_913+65del	NP_001135771.1:n.913+64_913+65del
NM_003900.4:c.1165+64_1165+65del	NP_003891.1:n.1165+64_1165+65del
XM_017010010.1:c.913+64_913+65del	XP_016865499.1:n.913+64_913+65del
NM_003900.5:c.1165+64_1165+65del MANE Select	NP_003891.1:n.1165+64_1165+65del
NM_001142298.2:c.913+64_913+65del	NP_001135770.1:n.913+64_913+65del
NM_001142299.2:c.913+64_913+65del	NP_001135771.1:n.913+64_913+65del