Canonical Allele Identifier: CA2676907543

Gene: SQSTM1

Linked Data

• gnomAD v4: 5-179833704-GGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833705_179833707del , CM000667.2:g.179833705_179833707del	GRCh38
NC_000005.9:g.179260705_179260707del , CM000667.1:g.179260705_179260707del	GRCh37
NC_000005.8:g.179193311_179193313del	NCBI36
NG_011342.1:g.32318_32320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1088_1090del MANE Select	ENSP00000374455.4:p.Gly363_Pro364delinsAla
ENST00000360718.5:c.836_838del	ENSP00000353944.5:p.Gly279_Pro280delinsAla
ENST00000389805.8:c.1088_1090del	ENSP00000374455.4:p.Gly363_Pro364delinsAla
ENST00000510187.5:c.950+478_950+480del	ENSP00000424477.1:n.950+478_950+480del
NM_001142298.1:c.836_838del	NP_001135770.1:p.Gly279_Pro280delinsAla
NM_001142299.1:c.836_838del	NP_001135771.1:p.Gly279_Pro280delinsAla
NM_003900.4:c.1088_1090del	NP_003891.1:p.Gly363_Pro364delinsAla
XM_017010010.1:c.836_838del	XP_016865499.1:p.Gly279_Pro280delinsAla
NM_003900.5:c.1088_1090del MANE Select	NP_003891.1:p.Gly363_Pro364delinsAla
NM_001142298.2:c.836_838del	NP_001135770.1:p.Gly279_Pro280delinsAla
NM_001142299.2:c.836_838del	NP_001135771.1:p.Gly279_Pro280delinsAla