Canonical Allele Identifier: CA2576945396
Gene: SOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022598del , CM000664.2:g.39022598del GRCh38
NC_000002.11:g.39249739del , CM000664.1:g.39249739del GRCh37
NC_000002.10:g.39103243del NCBI36
NG_007530.1:g.102866del , LRG_754:g.102866del

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1710del
ENST00000685279.1:c.597del ENSP00000509424.1:p.Ile199MetfsTer?
ENST00000688043.1:n.2051del
ENST00000689668.1:n.1837del
ENST00000690876.1:c.1719del ENSP00000508955.1:p.Ile573MetfsTer?
ENST00000691229.1:c.1719del ENSP00000510437.1:p.Ile573MetfsTer?
ENST00000692089.1:c.1719del ENSP00000508626.1:p.Ile573MetfsTer?
ENST00000692620.1:c.597del ENSP00000509311.1:p.Ile199MetfsTer?
ENST00000402219.8:c.1830del MANE Select ENSP00000384675.2:p.Ile610MetfsTer?
ENST00000395038.6:c.1830del ENSP00000378479.2:p.Ile610MetfsTer?
ENST00000402219.6:c.1830del ENSP00000384675.2:p.Ile610MetfsTer?
ENST00000426016.5:c.1830del ENSP00000387784.1:p.Ile610MetfsTer?
NM_005633.3:c.1830del , LRG_754t1:c.1830del NP_005624.2:p.Ile610MetfsTer?
XM_005264515.3:c.1830del XP_005264572.1:p.Ile610MetfsTer?
XM_011533060.1:c.1923del XP_011531362.1:p.Ile641MetfsTer?
XM_011533061.1:c.1923del XP_011531363.1:p.Ile641MetfsTer?
XM_011533062.1:c.1809del XP_011531364.1:p.Ile603MetfsTer?
XM_011533063.1:c.1806del XP_011531365.1:p.Ile602MetfsTer?
XM_011533064.1:c.1659del XP_011531366.1:p.Ile553MetfsTer?
XM_011533065.1:c.1923del XP_011531367.1:p.Ile641MetfsTer?
XM_011533066.1:c.765del XP_011531368.1:p.Ile255MetfsTer?
XM_005264515.4:c.1830del XP_005264572.1:p.Ile610MetfsTer?
XM_011533062.2:c.1809del XP_011531364.1:p.Ile603MetfsTer?
XM_011533064.2:c.1659del XP_011531366.1:p.Ile553MetfsTer?
NM_001382394.1:c.1809del NP_001369323.1:p.Ile603MetfsTer?
NM_001382395.1:c.1830del NP_001369324.1:p.Ile610MetfsTer?
NM_005633.4:c.1830del MANE Select NP_005624.2:p.Ile610MetfsTer?