Canonical Allele Identifier: CA1604334227
Gene: SQSTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833859_179833863delinsCACAA , CM000667.2:g.179833859_179833863delinsCACAA GRCh38
NC_000005.9:g.179260859_179260863delinsCACAA , CM000667.1:g.179260859_179260863delinsCACAA GRCh37
NC_000005.8:g.179193465_179193469delinsCACAA NCBI36
NG_011342.1:g.32472_32476delinsCACAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.1165+77_1165+81delinsCACAA MANE Select ENSP00000374455.4:n.1165+77_1165+81delinsCACAA
ENST00000360718.5:c.913+77_913+81delinsCACAA ENSP00000353944.5:n.913+77_913+81delinsCACAA
ENST00000389805.8:c.1165+77_1165+81delinsCACAA ENSP00000374455.4:n.1165+77_1165+81delinsCACAA
ENST00000510187.5:c.950+632_950+636delinsCACAA ENSP00000424477.1:n.950+632_950+636delinsCACAA
NM_001142298.1:c.913+77_913+81delinsCACAA NP_001135770.1:n.913+77_913+81delinsCACAA
NM_001142299.1:c.913+77_913+81delinsCACAA NP_001135771.1:n.913+77_913+81delinsCACAA
NM_003900.4:c.1165+77_1165+81delinsCACAA NP_003891.1:n.1165+77_1165+81delinsCACAA
XM_017010010.1:c.913+77_913+81delinsCACAA XP_016865499.1:n.913+77_913+81delinsCACAA
NM_003900.5:c.1165+77_1165+81delinsCACAA MANE Select NP_003891.1:n.1165+77_1165+81delinsCACAA
NM_001142298.2:c.913+77_913+81delinsCACAA NP_001135770.1:n.913+77_913+81delinsCACAA
NM_001142299.2:c.913+77_913+81delinsCACAA NP_001135771.1:n.913+77_913+81delinsCACAA