Canonical Allele Identifier: CA2658715476
Gene: SOS1 HGNC NCBI

Linked Data

gnomAD v4: 2-39022985-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022987del , CM000664.2:g.39022987del GRCh38
NC_000002.11:g.39250128del , CM000664.1:g.39250128del GRCh37
NC_000002.10:g.39103632del NCBI36
NG_007530.1:g.102478del , LRG_754:g.102478del

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1322del
ENST00000685279.1:c.209del ENSP00000509424.1:p.Pro70LeufsTer?
ENST00000688043.1:n.1663del
ENST00000689668.1:n.1449del
ENST00000690876.1:c.1331del ENSP00000508955.1:p.Pro444LeufsTer?
ENST00000691229.1:c.1331del ENSP00000510437.1:p.Pro444LeufsTer?
ENST00000692089.1:c.1331del ENSP00000508626.1:p.Pro444LeufsTer?
ENST00000692620.1:c.209del ENSP00000509311.1:p.Pro70LeufsTer?
ENST00000402219.8:c.1442del MANE Select ENSP00000384675.2:p.Pro481LeufsTer?
ENST00000395038.6:c.1442del ENSP00000378479.2:p.Pro481LeufsTer?
ENST00000402219.6:c.1442del ENSP00000384675.2:p.Pro481LeufsTer?
ENST00000426016.5:c.1442del ENSP00000387784.1:p.Pro481LeufsTer?
ENST00000472480.1:n.286del
NM_005633.3:c.1442del , LRG_754t1:c.1442del NP_005624.2:p.Pro481LeufsTer?
XM_005264515.3:c.1442del XP_005264572.1:p.Pro481LeufsTer?
XM_011533060.1:c.1535del XP_011531362.1:p.Pro512LeufsTer?
XM_011533061.1:c.1535del XP_011531363.1:p.Pro512LeufsTer?
XM_011533062.1:c.1421del XP_011531364.1:p.Pro474LeufsTer?
XM_011533063.1:c.1418del XP_011531365.1:p.Pro473LeufsTer?
XM_011533064.1:c.1271del XP_011531366.1:p.Pro424LeufsTer?
XM_011533065.1:c.1535del XP_011531367.1:p.Pro512LeufsTer?
XM_011533066.1:c.377del XP_011531368.1:p.Pro126LeufsTer?
XM_005264515.4:c.1442del XP_005264572.1:p.Pro481LeufsTer?
XM_011533062.2:c.1421del XP_011531364.1:p.Pro474LeufsTer?
XM_011533064.2:c.1271del XP_011531366.1:p.Pro424LeufsTer?
NM_001382394.1:c.1421del NP_001369323.1:p.Pro474LeufsTer?
NM_001382395.1:c.1442del NP_001369324.1:p.Pro481LeufsTer?
NM_005633.4:c.1442del MANE Select NP_005624.2:p.Pro481LeufsTer?
Search 100 bp 5'
Search 100 bp 3'