Canonical Allele Identifier: CA1604334217
Gene: SQSTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833847_179833870delinsTGATTTCAGCGACACAAACAGAAG , CM000667.2:g.179833847_179833870delinsTGATTTCAGCGACACAAACAGAAG GRCh38
NC_000005.9:g.179260847_179260870delinsTGATTTCAGCGACACAAACAGAAG , CM000667.1:g.179260847_179260870delinsTGATTTCAGCGACACAAACAGAAG GRCh37
NC_000005.8:g.179193453_179193476delinsTGATTTCAGCGACACAAACAGAAG NCBI36
NG_011342.1:g.32460_32483delinsTGATTTCAGCGACACAAACAGAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.1165+65_1165+88delinsTGATTTCAGCGACACAAACAGAAG MANE Select ENSP00000374455.4:n.1165+65_1165+88delinsTGATTTCAGCGACACAAACA...
ENST00000360718.5:c.913+65_913+88delinsTGATTTCAGCGACACAAACAGAAG ENSP00000353944.5:n.913+65_913+88delinsTGATTTCAGCGACACAAACAGA...
ENST00000389805.8:c.1165+65_1165+88delinsTGATTTCAGCGACACAAACAGAAG ENSP00000374455.4:n.1165+65_1165+88delinsTGATTTCAGCGACACAAACA...
ENST00000510187.5:c.950+620_950+643delinsTGATTTCAGCGACACAAACAGAAG ENSP00000424477.1:n.950+620_950+643delinsTGATTTCAGCGACACAAACA...
NM_001142298.1:c.913+65_913+88delinsTGATTTCAGCGACACAAACAGAAG NP_001135770.1:n.913+65_913+88delinsTGATTTCAGCGACACAAACAGAAG
NM_001142299.1:c.913+65_913+88delinsTGATTTCAGCGACACAAACAGAAG NP_001135771.1:n.913+65_913+88delinsTGATTTCAGCGACACAAACAGAAG
NM_003900.4:c.1165+65_1165+88delinsTGATTTCAGCGACACAAACAGAAG NP_003891.1:n.1165+65_1165+88delinsTGATTTCAGCGACACAAACAGAAG
XM_017010010.1:c.913+65_913+88delinsTGATTTCAGCGACACAAACAGAAG XP_016865499.1:n.913+65_913+88delinsTGATTTCAGCGACACAAACAGAAG
NM_003900.5:c.1165+65_1165+88delinsTGATTTCAGCGACACAAACAGAAG MANE Select NP_003891.1:n.1165+65_1165+88delinsTGATTTCAGCGACACAAACAGAAG
NM_001142298.2:c.913+65_913+88delinsTGATTTCAGCGACACAAACAGAAG NP_001135770.1:n.913+65_913+88delinsTGATTTCAGCGACACAAACAGAAG
NM_001142299.2:c.913+65_913+88delinsTGATTTCAGCGACACAAACAGAAG NP_001135771.1:n.913+65_913+88delinsTGATTTCAGCGACACAAACAGAAG