Canonical Allele Identifier: CA3600777

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 1061099
• ClinVar RCV Id: RCV001370619 ; RCV001664855
• dbSNP Id: rs778047147
• ExAC: 5:179260612 CAGG / C
• gnomAD v2: 5-179260612-CAGG-C
• gnomAD v3: 5-179833612-CAGG-C
• gnomAD v4: 5-179833612-CAGG-C
• MyVariant Identifiers: chr5:g.179260613_179260615del (hg19) ; chr5:g.179833614_179833616del (hg38) ; chr5:g.179833613_179833615del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833618_179833620del , CM000667.2:g.179833618_179833620del	GRCh38
NC_000005.9:g.179260618_179260620del , CM000667.1:g.179260618_179260620del	GRCh37
NC_000005.8:g.179193224_179193226del	NCBI36
NG_011342.1:g.32231_32233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1001_1003del MANE Select	ENSP00000374455.4:p.Gly334del
ENST00000360718.5:c.749_751del	ENSP00000353944.5:p.Gly250del
ENST00000389805.8:c.1001_1003del	ENSP00000374455.4:p.Gly334del
ENST00000510187.5:c.950+391_950+393del	ENSP00000424477.1:n.950+391_950+393del
NM_001142298.1:c.749_751del	NP_001135770.1:p.Gly250del
NM_001142299.1:c.749_751del	NP_001135771.1:p.Gly250del
NM_003900.4:c.1001_1003del	NP_003891.1:p.Gly334del
XM_017010010.1:c.749_751del	XP_016865499.1:p.Gly250del
NM_003900.5:c.1001_1003del MANE Select	NP_003891.1:p.Gly334del
NM_001142298.2:c.749_751del	NP_001135770.1:p.Gly250del
NM_001142299.2:c.749_751del	NP_001135771.1:p.Gly250del