Canonical Allele Identifier: CA808344053

Gene: SQSTM1

Linked Data

• dbSNP Id: rs1439101777
• gnomAD v3: 5-179833899-CTG-C
• gnomAD v4: 5-179833899-CTG-C
• MyVariant Identifiers: chr5:g.179260900_179260901del (hg19) ; chr5:g.179833900_179833901del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833901_179833902del , CM000667.2:g.179833901_179833902del	GRCh38
NC_000005.9:g.179260901_179260902del , CM000667.1:g.179260901_179260902del	GRCh37
NC_000005.8:g.179193507_179193508del	NCBI36
NG_011342.1:g.32514_32515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1165+119_1165+120del MANE Select	ENSP00000374455.4:n.1165+119_1165+120del
ENST00000360718.5:c.913+119_913+120del	ENSP00000353944.5:n.913+119_913+120del
ENST00000389805.8:c.1165+119_1165+120del	ENSP00000374455.4:n.1165+119_1165+120del
ENST00000510187.5:c.950+674_950+675del	ENSP00000424477.1:n.950+674_950+675del
NM_001142298.1:c.913+119_913+120del	NP_001135770.1:n.913+119_913+120del
NM_001142299.1:c.913+119_913+120del	NP_001135771.1:n.913+119_913+120del
NM_003900.4:c.1165+119_1165+120del	NP_003891.1:n.1165+119_1165+120del
XM_017010010.1:c.913+119_913+120del	XP_016865499.1:n.913+119_913+120del
NM_003900.5:c.1165+119_1165+120del MANE Select	NP_003891.1:n.1165+119_1165+120del
NM_001142298.2:c.913+119_913+120del	NP_001135770.1:n.913+119_913+120del
NM_001142299.2:c.913+119_913+120del	NP_001135771.1:n.913+119_913+120del