Canonical Allele Identifier: CA1604334066
Gene: SQSTM1 HGNC NCBI

Linked Data

dbSNP Id: rs1758351811

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833589dup , CM000667.2:g.179833589dup GRCh38
NC_000005.9:g.179260589dup , CM000667.1:g.179260589dup GRCh37
NC_000005.8:g.179193195dup NCBI36
NG_011342.1:g.32202dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.972dup MANE Select ENSP00000374455.4:p.Gln325ThrfsTer6
ENST00000360718.5:c.720dup ENSP00000353944.5:p.Gln241ThrfsTer6
ENST00000389805.8:c.972dup ENSP00000374455.4:p.Gln325ThrfsTer6
ENST00000510187.5:c.950+362dup ENSP00000424477.1:n.950+362dup
NM_001142298.1:c.720dup NP_001135770.1:p.Gln241ThrfsTer6
NM_001142299.1:c.720dup NP_001135771.1:p.Gln241ThrfsTer6
NM_003900.4:c.972dup NP_003891.1:p.Gln325ThrfsTer6
XM_017010010.1:c.720dup XP_016865499.1:p.Gln241ThrfsTer6
NM_003900.5:c.972dup MANE Select NP_003891.1:p.Gln325ThrfsTer6
NM_001142298.2:c.720dup NP_001135770.1:p.Gln241ThrfsTer6
NM_001142299.2:c.720dup NP_001135771.1:p.Gln241ThrfsTer6