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: CA2658716546
Community Standard Title: NM_005633.4(SOS1):c.720+82del
Gene: SOS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39054532del , CM000664.2:g.39054532del GRCh38
NC_000002.11:g.39281673del , CM000664.1:g.39281673del GRCh37
NC_000002.10:g.39135177del NCBI36
NG_007530.1:g.70932del , LRG_754:g.70932del

Transcript Alleles

HGVS Amino-acid Change
NM_005633.4:c.720+82del MANE Select NP_005624.2:n.720+82del
ENST00000402219.8:c.720+82del MANE Select ENSP00000384675.2:n.720+82del
NM_001382394.1:c.699+82del NP_001369323.1:n.699+82del
NM_001382395.1:c.720+82del NP_001369324.1:n.720+82del
NM_005633.3:c.720+82del , LRG_754t1:c.720+82del NP_005624.2:n.720+82del
ENST00000395038.6:c.720+82del ENSP00000378479.2:n.720+82del
ENST00000402219.6:c.720+82del ENSP00000384675.2:n.720+82del
ENST00000426016.5:c.720+82del ENSP00000387784.1:n.720+82del
ENST00000461545.2:n.747+82del
ENST00000685782.1:n.1558+82del
ENST00000688189.1:n.567del
ENST00000689668.1:n.727+82del
ENST00000690679.1:c.820+82del
ENST00000690876.1:c.720+82del ENSP00000508955.1:n.720+82del
ENST00000691229.1:c.720+82del ENSP00000510437.1:n.720+82del
ENST00000692089.1:c.720+82del ENSP00000508626.1:n.720+82del
XM_005264515.3:c.720+82del XP_005264572.1:n.720+82del
XM_005264515.4:c.720+82del XP_005264572.1:n.720+82del
XM_011533060.1:c.813+82del XP_011531362.1:n.813+82del
XM_011533061.1:c.813+82del XP_011531363.1:n.813+82del
XM_011533062.1:c.699+82del XP_011531364.1:n.699+82del
XM_011533062.2:c.699+82del XP_011531364.1:n.699+82del
XM_011533063.1:c.696+82del XP_011531365.1:n.696+82del
XM_011533064.1:c.549+82del XP_011531366.1:n.549+82del
XM_011533064.2:c.549+82del XP_011531366.1:n.549+82del
XM_011533065.1:c.813+82del XP_011531367.1:n.813+82del
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