Canonical Allele Identifier: CA808344005

Gene: SQSTM1

Linked Data

• dbSNP Id: rs1339118750
• gnomAD v4: 5-179833859-CACAA-C
• MyVariant Identifiers: chr5:g.179260860_179260863del (hg19) ; chr5:g.179833860_179833863del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833863_179833866del , CM000667.2:g.179833863_179833866del	GRCh38
NC_000005.9:g.179260863_179260866del , CM000667.1:g.179260863_179260866del	GRCh37
NC_000005.8:g.179193469_179193472del	NCBI36
NG_011342.1:g.32476_32479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1165+81_1165+84del MANE Select	ENSP00000374455.4:n.1165+81_1165+84del
ENST00000360718.5:c.913+81_913+84del	ENSP00000353944.5:n.913+81_913+84del
ENST00000389805.8:c.1165+81_1165+84del	ENSP00000374455.4:n.1165+81_1165+84del
ENST00000510187.5:c.950+636_950+639del	ENSP00000424477.1:n.950+636_950+639del
NM_001142298.1:c.913+81_913+84del	NP_001135770.1:n.913+81_913+84del
NM_001142299.1:c.913+81_913+84del	NP_001135771.1:n.913+81_913+84del
NM_003900.4:c.1165+81_1165+84del	NP_003891.1:n.1165+81_1165+84del
XM_017010010.1:c.913+81_913+84del	XP_016865499.1:n.913+81_913+84del
NM_003900.5:c.1165+81_1165+84del MANE Select	NP_003891.1:n.1165+81_1165+84del
NM_001142298.2:c.913+81_913+84del	NP_001135770.1:n.913+81_913+84del
NM_001142299.2:c.913+81_913+84del	NP_001135771.1:n.913+81_913+84del