Canonical Allele Identifier: CA2695205811
Gene: SQSTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833706del , CM000667.2:g.179833706del GRCh38
NC_000005.9:g.179260706del , CM000667.1:g.179260706del GRCh37
NC_000005.8:g.179193312del NCBI36
NG_011342.1:g.32319del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.1089del MANE Select ENSP00000374455.4:p.Pro364GlnfsTer14
ENST00000360718.5:c.837del ENSP00000353944.5:p.Pro280GlnfsTer14
ENST00000389805.8:c.1089del ENSP00000374455.4:p.Pro364GlnfsTer14
ENST00000510187.5:c.950+479del ENSP00000424477.1:n.950+479del
NM_001142298.1:c.837del NP_001135770.1:p.Pro280GlnfsTer14
NM_001142299.1:c.837del NP_001135771.1:p.Pro280GlnfsTer14
NM_003900.4:c.1089del NP_003891.1:p.Pro364GlnfsTer14
XM_017010010.1:c.837del XP_016865499.1:p.Pro280GlnfsTer14
NM_003900.5:c.1089del MANE Select NP_003891.1:p.Pro364GlnfsTer14
NM_001142298.2:c.837del NP_001135770.1:p.Pro280GlnfsTer14
NM_001142299.2:c.837del NP_001135771.1:p.Pro280GlnfsTer14