Canonical Allele Identifier: CA2676907686

Gene: SQSTM1

Linked Data

• gnomAD v4: 5-179833847-T-TGATTTCAGCGACACAAACAGAAGGATGAGATGTTCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833848_179833885dup , CM000667.2:g.179833848_179833885dup	GRCh38
NC_000005.9:g.179260848_179260885dup , CM000667.1:g.179260848_179260885dup	GRCh37
NC_000005.8:g.179193454_179193491dup	NCBI36
NG_011342.1:g.32461_32498dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1165+66_1165+103dup MANE Select	ENSP00000374455.4:n.1165+66_1165+103dup
ENST00000360718.5:c.913+66_913+103dup	ENSP00000353944.5:n.913+66_913+103dup
ENST00000389805.8:c.1165+66_1165+103dup	ENSP00000374455.4:n.1165+66_1165+103dup
ENST00000510187.5:c.950+621_950+658dup	ENSP00000424477.1:n.950+621_950+658dup
NM_001142298.1:c.913+66_913+103dup	NP_001135770.1:n.913+66_913+103dup
NM_001142299.1:c.913+66_913+103dup	NP_001135771.1:n.913+66_913+103dup
NM_003900.4:c.1165+66_1165+103dup	NP_003891.1:n.1165+66_1165+103dup
XM_017010010.1:c.913+66_913+103dup	XP_016865499.1:n.913+66_913+103dup
NM_003900.5:c.1165+66_1165+103dup MANE Select	NP_003891.1:n.1165+66_1165+103dup
NM_001142298.2:c.913+66_913+103dup	NP_001135770.1:n.913+66_913+103dup
NM_001142299.2:c.913+66_913+103dup	NP_001135771.1:n.913+66_913+103dup