This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA3098566975
Gene: SOS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38985711G= , CM000664.2:g.38985711G= GRCh38
NC_000002.11:g.39212852G= , CM000664.1:g.39212852G= GRCh37
NC_000002.10:g.39066356G= NCBI36
NG_007530.1:g.139753C= , LRG_754:g.139753C=

Transcript Alleles

HGVS Amino-acid Change
NM_005633.4:c.*113C= MANE Select NP_005624.2:n.*113C=
ENST00000402219.8:c.*113C= MANE Select ENSP00000384675.2:n.*113C=
NM_001382394.1:c.*113C= NP_001369323.1:n.*113C=
NM_001382395.1:c.*113C= NP_001369324.1:n.*113C=
NM_005633.3:c.*113C= , LRG_754t1:c.*113C= NP_005624.2:n.*113C=
ENST00000395038.6:c.*113C= ENSP00000378479.2:n.*113C=
ENST00000402219.6:c.*113C= ENSP00000384675.2:n.*113C=
ENST00000426016.5:c.*113C= ENSP00000387784.1:n.*113C=
ENST00000685279.1:c.*113C= ENSP00000509424.1:n.*113C=
ENST00000686849.1:n.906C=
ENST00000690876.1:c.*1421C= ENSP00000508955.1:n.*1421C=
ENST00000692089.1:c.3399+1762C= ENSP00000508626.1:n.3399+1762C=
ENST00000692227.1:c.1162-348C= ENSP00000509138.1:n.1162-348C=
XM_005264515.3:c.*113C= XP_005264572.1:n.*113C=
XM_005264515.4:c.*113C= XP_005264572.1:n.*113C=
XM_011533060.1:c.*113C= XP_011531362.1:n.*113C=
XM_011533061.1:c.*113C= XP_011531363.1:n.*113C=
XM_011533062.1:c.*113C= XP_011531364.1:n.*113C=
XM_011533062.2:c.*113C= XP_011531364.1:n.*113C=
XM_011533063.1:c.*113C= XP_011531365.1:n.*113C=
XM_011533064.1:c.*113C= XP_011531366.1:n.*113C=
XM_011533064.2:c.*113C= XP_011531366.1:n.*113C=
XM_011533065.1:c.3604-348C= XP_011531367.1:n.3604-348C=
XM_011533066.1:c.*113C= XP_011531368.1:n.*113C=
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