Canonical Allele Identifier: CA564931105

Gene: SQSTM1

Linked Data

• dbSNP Id: rs1561606366
• gnomAD v2: 5-179260839-CCCT-C
• gnomAD v3: 5-179833839-CCCT-C
• gnomAD v4: 5-179833839-CCCT-C
• MyVariant Identifiers: chr5:g.179260840_179260842del (hg19) ; chr5:g.179833840_179833842del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833844_179833846del , CM000667.2:g.179833844_179833846del	GRCh38
NC_000005.9:g.179260844_179260846del , CM000667.1:g.179260844_179260846del	GRCh37
NC_000005.8:g.179193450_179193452del	NCBI36
NG_011342.1:g.32457_32459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1165+62_1165+64del MANE Select	ENSP00000374455.4:n.1165+62_1165+64del
ENST00000360718.5:c.913+62_913+64del	ENSP00000353944.5:n.913+62_913+64del
ENST00000389805.8:c.1165+62_1165+64del	ENSP00000374455.4:n.1165+62_1165+64del
ENST00000510187.5:c.950+617_950+619del	ENSP00000424477.1:n.950+617_950+619del
NM_001142298.1:c.913+62_913+64del	NP_001135770.1:n.913+62_913+64del
NM_001142299.1:c.913+62_913+64del	NP_001135771.1:n.913+62_913+64del
NM_003900.4:c.1165+62_1165+64del	NP_003891.1:n.1165+62_1165+64del
XM_017010010.1:c.913+62_913+64del	XP_016865499.1:n.913+62_913+64del
NM_003900.5:c.1165+62_1165+64del MANE Select	NP_003891.1:n.1165+62_1165+64del
NM_001142298.2:c.913+62_913+64del	NP_001135770.1:n.913+62_913+64del
NM_001142299.2:c.913+62_913+64del	NP_001135771.1:n.913+62_913+64del