Canonical Allele Identifier: CA645529322
Gene: SOS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022738_39022739del , CM000664.2:g.39022738_39022739del GRCh38
NC_000002.11:g.39249879_39249880del , CM000664.1:g.39249879_39249880del GRCh37
NC_000002.10:g.39103383_39103384del NCBI36
NG_007530.1:g.102727_102728del , LRG_754:g.102727_102728del

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1571_1572del
ENST00000685279.1:c.458_459del ENSP00000509424.1:p.Glu153GlyfsTer7
ENST00000688043.1:n.1912_1913del
ENST00000689668.1:n.1698_1699del
ENST00000690876.1:c.1580_1581del ENSP00000508955.1:p.Glu527GlyfsTer7
ENST00000691229.1:c.1580_1581del ENSP00000510437.1:p.Glu527GlyfsTer7
ENST00000692089.1:c.1580_1581del ENSP00000508626.1:p.Glu527GlyfsTer7
ENST00000692620.1:c.458_459del ENSP00000509311.1:p.Glu153GlyfsTer7
ENST00000402219.8:c.1691_1692del MANE Select ENSP00000384675.2:p.Glu564GlyfsTer7
ENST00000395038.6:c.1691_1692del ENSP00000378479.2:p.Glu564GlyfsTer7
ENST00000402219.6:c.1691_1692del ENSP00000384675.2:p.Glu564GlyfsTer7
ENST00000426016.5:c.1691_1692del ENSP00000387784.1:p.Glu564GlyfsTer7
NM_005633.3:c.1691_1692del , LRG_754t1:c.1691_1692del NP_005624.2:p.Glu564GlyfsTer7
XM_005264515.3:c.1691_1692del XP_005264572.1:p.Glu564GlyfsTer7
XM_011533060.1:c.1784_1785del XP_011531362.1:p.Glu595GlyfsTer7
XM_011533061.1:c.1784_1785del XP_011531363.1:p.Glu595GlyfsTer7
XM_011533062.1:c.1670_1671del XP_011531364.1:p.Glu557GlyfsTer7
XM_011533063.1:c.1667_1668del XP_011531365.1:p.Glu556GlyfsTer7
XM_011533064.1:c.1520_1521del XP_011531366.1:p.Glu507GlyfsTer7
XM_011533065.1:c.1784_1785del XP_011531367.1:p.Glu595GlyfsTer7
XM_011533066.1:c.626_627del XP_011531368.1:p.Glu209GlyfsTer7
XM_005264515.4:c.1691_1692del XP_005264572.1:p.Glu564GlyfsTer7
XM_011533062.2:c.1670_1671del XP_011531364.1:p.Glu557GlyfsTer7
XM_011533064.2:c.1520_1521del XP_011531366.1:p.Glu507GlyfsTer7
NM_001382394.1:c.1670_1671del NP_001369323.1:p.Glu557GlyfsTer7
NM_001382395.1:c.1691_1692del NP_001369324.1:p.Glu564GlyfsTer7
NM_005633.4:c.1691_1692del MANE Select NP_005624.2:p.Glu564GlyfsTer7