Canonical Allele Identifier: CA2580611264
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2567926
ClinVar RCV Id: RCV003311511 RCV003655418
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022655_39022672dup , CM000664.2:g.39022655_39022672dup GRCh38
NC_000002.11:g.39249796_39249813dup , CM000664.1:g.39249796_39249813dup GRCh37
NC_000002.10:g.39103300_39103317dup NCBI36
NG_007530.1:g.102794_102811dup , LRG_754:g.102794_102811dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1638_1655dup
ENST00000685279.1:c.525_542dup ENSP00000509424.1:p.Asn180_Met181insIleIlePheGluGluAsn
ENST00000688043.1:n.1979_1996dup
ENST00000689668.1:n.1765_1782dup
ENST00000690876.1:c.1647_1664dup ENSP00000508955.1:p.Asn554_Met555insIleIlePheGluGluAsn
ENST00000691229.1:c.1647_1664dup ENSP00000510437.1:p.Asn554_Met555insIleIlePheGluGluAsn
ENST00000692089.1:c.1647_1664dup ENSP00000508626.1:p.Asn554_Met555insIleIlePheGluGluAsn
ENST00000692620.1:c.525_542dup ENSP00000509311.1:p.Asn180_Met181insIleIlePheGluGluAsn
ENST00000402219.8:c.1758_1775dup MANE Select ENSP00000384675.2:p.Asn591_Met592insIleIlePheGluGluAsn
ENST00000395038.6:c.1758_1775dup ENSP00000378479.2:p.Asn591_Met592insIleIlePheGluGluAsn
ENST00000402219.6:c.1758_1775dup ENSP00000384675.2:p.Asn591_Met592insIleIlePheGluGluAsn
ENST00000426016.5:c.1758_1775dup ENSP00000387784.1:p.Asn591_Met592insIleIlePheGluGluAsn
NM_005633.3:c.1758_1775dup , LRG_754t1:c.1758_1775dup NP_005624.2:p.Asn591_Met592insIleIlePheGluGluAsn
XM_005264515.3:c.1758_1775dup XP_005264572.1:p.Asn591_Met592insIleIlePheGluGluAsn
XM_011533060.1:c.1851_1868dup XP_011531362.1:p.Asn622_Met623insIleIlePheGluGluAsn
XM_011533061.1:c.1851_1868dup XP_011531363.1:p.Asn622_Met623insIleIlePheGluGluAsn
XM_011533062.1:c.1737_1754dup XP_011531364.1:p.Asn584_Met585insIleIlePheGluGluAsn
XM_011533063.1:c.1734_1751dup XP_011531365.1:p.Asn583_Met584insIleIlePheGluGluAsn
XM_011533064.1:c.1587_1604dup XP_011531366.1:p.Asn534_Met535insIleIlePheGluGluAsn
XM_011533065.1:c.1851_1868dup XP_011531367.1:p.Asn622_Met623insIleIlePheGluGluAsn
XM_011533066.1:c.693_710dup XP_011531368.1:p.Asn236_Met237insIleIlePheGluGluAsn
XM_005264515.4:c.1758_1775dup XP_005264572.1:p.Asn591_Met592insIleIlePheGluGluAsn
XM_011533062.2:c.1737_1754dup XP_011531364.1:p.Asn584_Met585insIleIlePheGluGluAsn
XM_011533064.2:c.1587_1604dup XP_011531366.1:p.Asn534_Met535insIleIlePheGluGluAsn
NM_001382394.1:c.1737_1754dup NP_001369323.1:p.Asn584_Met585insIleIlePheGluGluAsn
NM_001382395.1:c.1758_1775dup NP_001369324.1:p.Asn591_Met592insIleIlePheGluGluAsn
NM_005633.4:c.1758_1775dup MANE Select NP_005624.2:p.Asn591_Met592insIleIlePheGluGluAsn
Search 100 bp 5'
Search 100 bp 3'