Canonical Allele Identifier: CA2740094216

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 3032118
• ClinVar RCV Id: RCV004534553

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833622_179833623insC , CM000667.2:g.179833622_179833623insC	GRCh38
NC_000005.9:g.179260622_179260623insC , CM000667.1:g.179260622_179260623insC	GRCh37
NC_000005.8:g.179193228_179193229insC	NCBI36
NG_011342.1:g.32235_32236insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1005_1006insC MANE Select	ENSP00000374455.4:p.Asp336ArgfsTer2
ENST00000360718.5:c.753_754insC	ENSP00000353944.5:p.Asp252ArgfsTer2
ENST00000389805.8:c.1005_1006insC	ENSP00000374455.4:p.Asp336ArgfsTer2
ENST00000510187.5:c.950+395_950+396insC	ENSP00000424477.1:n.950+395_950+396insC
NM_001142298.1:c.753_754insC	NP_001135770.1:p.Asp252ArgfsTer2
NM_001142299.1:c.753_754insC	NP_001135771.1:p.Asp252ArgfsTer2
NM_003900.4:c.1005_1006insC	NP_003891.1:p.Asp336ArgfsTer2
XM_017010010.1:c.753_754insC	XP_016865499.1:p.Asp252ArgfsTer2
NM_003900.5:c.1005_1006insC MANE Select	NP_003891.1:p.Asp336ArgfsTer2
NM_001142298.2:c.753_754insC	NP_001135770.1:p.Asp252ArgfsTer2
NM_001142299.2:c.753_754insC	NP_001135771.1:p.Asp252ArgfsTer2