Canonical Allele Identifier: CA2676907576

Gene: SQSTM1

Linked Data

• gnomAD v4: 5-179833741-C-CAGGGTACA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833745_179833746insTACAAGGG , CM000667.2:g.179833745_179833746insTACAAGGG	GRCh38
NC_000005.9:g.179260745_179260746insTACAAGGG , CM000667.1:g.179260745_179260746insTACAAGGG	GRCh37
NC_000005.8:g.179193351_179193352insTACAAGGG	NCBI36
NG_011342.1:g.32358_32359insTACAAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1128_1129insTACAAGGG MANE Select	ENSP00000374455.4:p.Leu377TyrfsTer4
ENST00000360718.5:c.876_877insTACAAGGG	ENSP00000353944.5:p.Leu293TyrfsTer4
ENST00000389805.8:c.1128_1129insTACAAGGG	ENSP00000374455.4:p.Leu377TyrfsTer4
ENST00000510187.5:c.950+518_950+519insTACAAGGG	ENSP00000424477.1:n.950+518_950+519insTACAAGGG
NM_001142298.1:c.876_877insTACAAGGG	NP_001135770.1:p.Leu293TyrfsTer4
NM_001142299.1:c.876_877insTACAAGGG	NP_001135771.1:p.Leu293TyrfsTer4
NM_003900.4:c.1128_1129insTACAAGGG	NP_003891.1:p.Leu377TyrfsTer4
XM_017010010.1:c.876_877insTACAAGGG	XP_016865499.1:p.Leu293TyrfsTer4
NM_003900.5:c.1128_1129insTACAAGGG MANE Select	NP_003891.1:p.Leu377TyrfsTer4
NM_001142298.2:c.876_877insTACAAGGG	NP_001135770.1:p.Leu293TyrfsTer4
NM_001142299.2:c.876_877insTACAAGGG	NP_001135771.1:p.Leu293TyrfsTer4