Canonical Allele Identifier: CA1604334229
Gene: SQSTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833865_179833868delinsCAGA , CM000667.2:g.179833865_179833868delinsCAGA GRCh38
NC_000005.9:g.179260865_179260868delinsCAGA , CM000667.1:g.179260865_179260868delinsCAGA GRCh37
NC_000005.8:g.179193471_179193474delinsCAGA NCBI36
NG_011342.1:g.32478_32481delinsCAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.1165+83_1165+86delinsCAGA MANE Select ENSP00000374455.4:n.1165+83_1165+86delinsCAGA
ENST00000360718.5:c.913+83_913+86delinsCAGA ENSP00000353944.5:n.913+83_913+86delinsCAGA
ENST00000389805.8:c.1165+83_1165+86delinsCAGA ENSP00000374455.4:n.1165+83_1165+86delinsCAGA
ENST00000510187.5:c.950+638_950+641delinsCAGA ENSP00000424477.1:n.950+638_950+641delinsCAGA
NM_001142298.1:c.913+83_913+86delinsCAGA NP_001135770.1:n.913+83_913+86delinsCAGA
NM_001142299.1:c.913+83_913+86delinsCAGA NP_001135771.1:n.913+83_913+86delinsCAGA
NM_003900.4:c.1165+83_1165+86delinsCAGA NP_003891.1:n.1165+83_1165+86delinsCAGA
XM_017010010.1:c.913+83_913+86delinsCAGA XP_016865499.1:n.913+83_913+86delinsCAGA
NM_003900.5:c.1165+83_1165+86delinsCAGA MANE Select NP_003891.1:n.1165+83_1165+86delinsCAGA
NM_001142298.2:c.913+83_913+86delinsCAGA NP_001135770.1:n.913+83_913+86delinsCAGA
NM_001142299.2:c.913+83_913+86delinsCAGA NP_001135771.1:n.913+83_913+86delinsCAGA