Canonical Allele Identifier: CA808343377
Gene: SQSTM1 HGNC NCBI

Linked Data

dbSNP Id: rs1401690471
gnomAD v3: 5-179833515-G-GGAGCCAGGGCCATGGT
gnomAD v4: 5-179833515-G-GGAGCCAGGGCCATGGT
MyVariant Identifiers: chr5:g.179260515_179260516insGAGCCAGGGCCATGGT (hg19) chr5:g.179833515_179833516insGAGCCAGGGCCATGGT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833516_179833531dup , CM000667.2:g.179833516_179833531dup GRCh38
NC_000005.9:g.179260516_179260531dup , CM000667.1:g.179260516_179260531dup GRCh37
NC_000005.8:g.179193122_179193137dup NCBI36
NG_011342.1:g.32129_32144dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.970-71_970-56dup MANE Select ENSP00000374455.4:n.970-71_970-56dup
ENST00000360718.5:c.718-71_718-56dup ENSP00000353944.5:n.718-71_718-56dup
ENST00000389805.8:c.970-71_970-56dup ENSP00000374455.4:n.970-71_970-56dup
ENST00000510187.5:c.950+289_950+304dup ENSP00000424477.1:n.950+289_950+304dup
NM_001142298.1:c.718-71_718-56dup NP_001135770.1:n.718-71_718-56dup
NM_001142299.1:c.718-71_718-56dup NP_001135771.1:n.718-71_718-56dup
NM_003900.4:c.970-71_970-56dup NP_003891.1:n.970-71_970-56dup
XM_017010010.1:c.718-71_718-56dup XP_016865499.1:n.718-71_718-56dup
NM_003900.5:c.970-71_970-56dup MANE Select NP_003891.1:n.970-71_970-56dup
NM_001142298.2:c.718-71_718-56dup NP_001135770.1:n.718-71_718-56dup
NM_001142299.2:c.718-71_718-56dup NP_001135771.1:n.718-71_718-56dup
Search 100 bp 5'
Search 100 bp 3'