Canonical Allele Identifier: CA2580066438
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1697023
ClinVar RCV Id: RCV002267369
dbSNP Id: rs2124536829
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022795_39022798delinsTTTT , CM000664.2:g.39022795_39022798delinsTTTT GRCh38
NC_000002.11:g.39249936_39249939delinsTTTT , CM000664.1:g.39249936_39249939delinsTTTT GRCh37
NC_000002.10:g.39103440_39103443delinsTTTT NCBI36
NG_007530.1:g.102666_102669delinsAAAA , LRG_754:g.102666_102669delinsAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1510_1513delinsAAAA
ENST00000685279.1:c.397_400delinsAAAA ENSP00000509424.1:p.Leu133_Gln134delinsLysLys
ENST00000688043.1:n.1851_1854delinsAAAA
ENST00000689668.1:n.1637_1640delinsAAAA
ENST00000690876.1:c.1519_1522delinsAAAA ENSP00000508955.1:p.Leu507_Gln508delinsLysLys
ENST00000691229.1:c.1519_1522delinsAAAA ENSP00000510437.1:p.Leu507_Gln508delinsLysLys
ENST00000692089.1:c.1519_1522delinsAAAA ENSP00000508626.1:p.Leu507_Gln508delinsLysLys
ENST00000692620.1:c.397_400delinsAAAA ENSP00000509311.1:p.Leu133_Gln134delinsLysLys
ENST00000402219.8:c.1630_1633delinsAAAA MANE Select ENSP00000384675.2:p.Leu544_Gln545delinsLysLys
ENST00000395038.6:c.1630_1633delinsAAAA ENSP00000378479.2:p.Leu544_Gln545delinsLysLys
ENST00000402219.6:c.1630_1633delinsAAAA ENSP00000384675.2:p.Leu544_Gln545delinsLysLys
ENST00000426016.5:c.1630_1633delinsAAAA ENSP00000387784.1:p.Leu544_Gln545delinsLysLys
NM_005633.3:c.1630_1633delinsAAAA , LRG_754t1:c.1630_1633delinsAAAA NP_005624.2:p.Leu544_Gln545delinsLysLys
XM_005264515.3:c.1630_1633delinsAAAA XP_005264572.1:p.Leu544_Gln545delinsLysLys
XM_011533060.1:c.1723_1726delinsAAAA XP_011531362.1:p.Leu575_Gln576delinsLysLys
XM_011533061.1:c.1723_1726delinsAAAA XP_011531363.1:p.Leu575_Gln576delinsLysLys
XM_011533062.1:c.1609_1612delinsAAAA XP_011531364.1:p.Leu537_Gln538delinsLysLys
XM_011533063.1:c.1606_1609delinsAAAA XP_011531365.1:p.Leu536_Gln537delinsLysLys
XM_011533064.1:c.1459_1462delinsAAAA XP_011531366.1:p.Leu487_Gln488delinsLysLys
XM_011533065.1:c.1723_1726delinsAAAA XP_011531367.1:p.Leu575_Gln576delinsLysLys
XM_011533066.1:c.565_568delinsAAAA XP_011531368.1:p.Leu189_Gln190delinsLysLys
XM_005264515.4:c.1630_1633delinsAAAA XP_005264572.1:p.Leu544_Gln545delinsLysLys
XM_011533062.2:c.1609_1612delinsAAAA XP_011531364.1:p.Leu537_Gln538delinsLysLys
XM_011533064.2:c.1459_1462delinsAAAA XP_011531366.1:p.Leu487_Gln488delinsLysLys
NM_001382394.1:c.1609_1612delinsAAAA NP_001369323.1:p.Leu537_Gln538delinsLysLys
NM_001382395.1:c.1630_1633delinsAAAA NP_001369324.1:p.Leu544_Gln545delinsLysLys
NM_005633.4:c.1630_1633delinsAAAA MANE Select NP_005624.2:p.Leu544_Gln545delinsLysLys
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