Canonical Allele Identifier: CA1604334110

Gene: SQSTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833676_179833678delinsCCA , CM000667.2:g.179833676_179833678delinsCCA	GRCh38
NC_000005.9:g.179260676_179260678delinsCCA , CM000667.1:g.179260676_179260678delinsCCA	GRCh37
NC_000005.8:g.179193282_179193284delinsCCA	NCBI36
NG_011342.1:g.32289_32291delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1059_1061delinsCCA MANE Select	ENSP00000374455.4:p.Leu353=
ENST00000360718.5:c.807_809delinsCCA	ENSP00000353944.5:p.Leu269=
ENST00000389805.8:c.1059_1061delinsCCA	ENSP00000374455.4:p.Leu353=
ENST00000510187.5:c.950+449_950+451delinsCCA	ENSP00000424477.1:n.950+449_950+451delinsCCA
NM_001142298.1:c.807_809delinsCCA	NP_001135770.1:p.Leu269=
NM_001142299.1:c.807_809delinsCCA	NP_001135771.1:p.Leu269=
NM_003900.4:c.1059_1061delinsCCA	NP_003891.1:p.Leu353=
XM_017010010.1:c.807_809delinsCCA	XP_016865499.1:p.Leu269=
NM_003900.5:c.1059_1061delinsCCA MANE Select	NP_003891.1:p.Leu353=
NM_001142298.2:c.807_809delinsCCA	NP_001135770.1:p.Leu269=
NM_001142299.2:c.807_809delinsCCA	NP_001135771.1:p.Leu269=