Canonical Allele Identifier: CA1085047248

Gene: SQSTM1

Linked Data

• dbSNP Id: rs1008679317
• gnomAD v3: 5-179823859-GAA-G
• gnomAD v4: 5-179823859-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179823864_179823865del , CM000667.2:g.179823864_179823865del	GRCh38
NC_000005.9:g.179250864_179250865del , CM000667.1:g.179250864_179250865del	GRCh37
NC_000005.8:g.179183470_179183471del	NCBI36
NG_011342.1:g.22477_22478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.308_309del MANE Select	ENSP00000374455.4:p.Lys103ArgfsTer?
ENST00000360718.5:c.56_57del	ENSP00000353944.5:p.Lys19ArgfsTer?
ENST00000389805.8:c.308_309del	ENSP00000374455.4:p.Lys103ArgfsTer?
ENST00000422245.5:c.56_57del	ENSP00000394534.1:p.Lys19ArgfsTer?
ENST00000453046.5:c.*243_*244del	ENSP00000405061.1:n.*243_*244del
ENST00000464493.5:n.203_204del
ENST00000466342.1:n.7_8del
ENST00000481335.5:n.458_459del
ENST00000485412.1:n.300_301del
ENST00000504627.1:c.377_378del	ENSP00000425957.1:p.Lys126ArgfsTer?
ENST00000508284.5:c.*30_*31del	ENSP00000424195.1:n.*30_*31del
ENST00000510187.5:c.308_309del	ENSP00000424477.1:p.Lys103ArgfsTer?
ENST00000514093.5:c.56_57del	ENSP00000427308.1:p.Lys19ArgfsTer?
NM_001142298.1:c.56_57del	NP_001135770.1:p.Lys19ArgfsTer?
NM_001142299.1:c.56_57del	NP_001135771.1:p.Lys19ArgfsTer?
NM_003900.4:c.308_309del	NP_003891.1:p.Lys103ArgfsTer?
XM_017010010.1:c.56_57del	XP_016865499.1:p.Lys19ArgfsTer?
NM_003900.5:c.308_309del MANE Select	NP_003891.1:p.Lys103ArgfsTer?
NM_001142298.2:c.56_57del	NP_001135770.1:p.Lys19ArgfsTer?
NM_001142299.2:c.56_57del	NP_001135771.1:p.Lys19ArgfsTer?