Canonical Allele Identifier: CA1604334106
Gene: SQSTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833664_179833665delinsTA , CM000667.2:g.179833664_179833665delinsTA GRCh38
NC_000005.9:g.179260664_179260665delinsTA , CM000667.1:g.179260664_179260665delinsTA GRCh37
NC_000005.8:g.179193270_179193271delinsTA NCBI36
NG_011342.1:g.32277_32278delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.1047_1048delinsTA MANE Select ENSP00000374455.4:p.Ser349=
ENST00000360718.5:c.795_796delinsTA ENSP00000353944.5:p.Ser265=
ENST00000389805.8:c.1047_1048delinsTA ENSP00000374455.4:p.Ser349=
ENST00000510187.5:c.950+437_950+438delinsTA ENSP00000424477.1:n.950+437_950+438delinsTA
NM_001142298.1:c.795_796delinsTA NP_001135770.1:p.Ser265=
NM_001142299.1:c.795_796delinsTA NP_001135771.1:p.Ser265=
NM_003900.4:c.1047_1048delinsTA NP_003891.1:p.Ser349=
XM_017010010.1:c.795_796delinsTA XP_016865499.1:p.Ser265=
NM_003900.5:c.1047_1048delinsTA MANE Select NP_003891.1:p.Ser349=
NM_001142298.2:c.795_796delinsTA NP_001135770.1:p.Ser265=
NM_001142299.2:c.795_796delinsTA NP_001135771.1:p.Ser265=