Canonical Allele Identifier: CA1139656888
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 981571
ClinVar RCV Id: RCV001261089

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022715_39022720del , CM000664.2:g.39022715_39022720del GRCh38
NC_000002.11:g.39249856_39249861del , CM000664.1:g.39249856_39249861del GRCh37
NC_000002.10:g.39103360_39103365del NCBI36
NG_007530.1:g.102744_102749del , LRG_754:g.102744_102749del

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1588_1593del
ENST00000685279.1:c.475_480del ENSP00000509424.1:p.Pro159_Ser160del
ENST00000688043.1:n.1929_1934del
ENST00000689668.1:n.1715_1720del
ENST00000690876.1:c.1597_1602del ENSP00000508955.1:p.Pro533_Ser534del
ENST00000691229.1:c.1597_1602del ENSP00000510437.1:p.Pro533_Ser534del
ENST00000692089.1:c.1597_1602del ENSP00000508626.1:p.Pro533_Ser534del
ENST00000692620.1:c.475_480del ENSP00000509311.1:p.Pro159_Ser160del
ENST00000402219.8:c.1708_1713del MANE Select ENSP00000384675.2:p.Pro570_Ser571del
ENST00000395038.6:c.1708_1713del ENSP00000378479.2:p.Pro570_Ser571del
ENST00000402219.6:c.1708_1713del ENSP00000384675.2:p.Pro570_Ser571del
ENST00000426016.5:c.1708_1713del ENSP00000387784.1:p.Pro570_Ser571del
NM_005633.3:c.1708_1713del , LRG_754t1:c.1708_1713del NP_005624.2:p.Pro570_Ser571del
XM_005264515.3:c.1708_1713del XP_005264572.1:p.Pro570_Ser571del
XM_011533060.1:c.1801_1806del XP_011531362.1:p.Pro601_Ser602del
XM_011533061.1:c.1801_1806del XP_011531363.1:p.Pro601_Ser602del
XM_011533062.1:c.1687_1692del XP_011531364.1:p.Pro563_Ser564del
XM_011533063.1:c.1684_1689del XP_011531365.1:p.Pro562_Ser563del
XM_011533064.1:c.1537_1542del XP_011531366.1:p.Pro513_Ser514del
XM_011533065.1:c.1801_1806del XP_011531367.1:p.Pro601_Ser602del
XM_011533066.1:c.643_648del XP_011531368.1:p.Pro215_Ser216del
XM_005264515.4:c.1708_1713del XP_005264572.1:p.Pro570_Ser571del
XM_011533062.2:c.1687_1692del XP_011531364.1:p.Pro563_Ser564del
XM_011533064.2:c.1537_1542del XP_011531366.1:p.Pro513_Ser514del
NM_001382394.1:c.1687_1692del NP_001369323.1:p.Pro563_Ser564del
NM_001382395.1:c.1708_1713del NP_001369324.1:p.Pro570_Ser571del
NM_005633.4:c.1708_1713del MANE Select NP_005624.2:p.Pro570_Ser571del