Canonical Allele Identifier: CA2676907474

Gene: SQSTM1

Linked Data

• gnomAD v4: 5-179833604-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833604_179833605insC , CM000667.2:g.179833604_179833605insC	GRCh38
NC_000005.9:g.179260604_179260605insC , CM000667.1:g.179260604_179260605insC	GRCh37
NC_000005.8:g.179193210_179193211insC	NCBI36
NG_011342.1:g.32217_32218insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.987_988insC MANE Select	ENSP00000374455.4:p.Asn330GlnfsTer7
ENST00000360718.5:c.735_736insC	ENSP00000353944.5:p.Asn246GlnfsTer7
ENST00000389805.8:c.987_988insC	ENSP00000374455.4:p.Asn330GlnfsTer7
ENST00000510187.5:c.950+377_950+378insC	ENSP00000424477.1:n.950+377_950+378insC
NM_001142298.1:c.735_736insC	NP_001135770.1:p.Asn246GlnfsTer7
NM_001142299.1:c.735_736insC	NP_001135771.1:p.Asn246GlnfsTer7
NM_003900.4:c.987_988insC	NP_003891.1:p.Asn330GlnfsTer7
XM_017010010.1:c.735_736insC	XP_016865499.1:p.Asn246GlnfsTer7
NM_003900.5:c.987_988insC MANE Select	NP_003891.1:p.Asn330GlnfsTer7
NM_001142298.2:c.735_736insC	NP_001135770.1:p.Asn246GlnfsTer7
NM_001142299.2:c.735_736insC	NP_001135771.1:p.Asn246GlnfsTer7