Canonical Allele Identifier: CA2658714647

Gene: SOS1

Linked Data

• gnomAD v4: 2-39012331-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39012337del , CM000664.2:g.39012337del	GRCh38
NC_000002.11:g.39239478del , CM000664.1:g.39239478del	GRCh37
NC_000002.10:g.39092982del	NCBI36
NG_007530.1:g.113132del , LRG_754:g.113132del

Transcript Alleles

HGVS	Amino-acid change
ENST00000685279.1:c.951del	ENSP00000509424.1:p.Lys317AsnfsTer9
ENST00000688043.1:n.3516del
ENST00000689668.1:n.2191del
ENST00000690514.1:n.273del
ENST00000690876.1:c.2073del	ENSP00000508955.1:p.Lys691AsnfsTer9
ENST00000691229.1:c.2073del	ENSP00000510437.1:p.Lys691AsnfsTer9
ENST00000692089.1:c.2073del	ENSP00000508626.1:p.Lys691AsnfsTer9
ENST00000692620.1:c.934+1128del	ENSP00000509311.1:n.934+1128del
ENST00000402219.8:c.2184del MANE Select	ENSP00000384675.2:p.Lys728AsnfsTer9
ENST00000395038.6:c.2184del	ENSP00000378479.2:p.Lys728AsnfsTer9
ENST00000402219.6:c.2184del	ENSP00000384675.2:p.Lys728AsnfsTer9
ENST00000426016.5:c.2184del	ENSP00000387784.1:p.Lys728AsnfsTer9
NM_005633.3:c.2184del , LRG_754t1:c.2184del	NP_005624.2:p.Lys728AsnfsTer9
XM_005264515.3:c.2184del	XP_005264572.1:p.Lys728AsnfsTer9
XM_011533060.1:c.2277del	XP_011531362.1:p.Lys759AsnfsTer9
XM_011533061.1:c.2277del	XP_011531363.1:p.Lys759AsnfsTer9
XM_011533062.1:c.2163del	XP_011531364.1:p.Lys721AsnfsTer9
XM_011533063.1:c.2160del	XP_011531365.1:p.Lys720AsnfsTer9
XM_011533064.1:c.2013del	XP_011531366.1:p.Lys671AsnfsTer9
XM_011533065.1:c.2277del	XP_011531367.1:p.Lys759AsnfsTer9
XM_011533066.1:c.1119del	XP_011531368.1:p.Lys373AsnfsTer9
XM_005264515.4:c.2184del	XP_005264572.1:p.Lys728AsnfsTer9
XM_011533062.2:c.2163del	XP_011531364.1:p.Lys721AsnfsTer9
XM_011533064.2:c.2013del	XP_011531366.1:p.Lys671AsnfsTer9
NM_001382394.1:c.2163del	NP_001369323.1:p.Lys721AsnfsTer9
NM_001382395.1:c.2184del	NP_001369324.1:p.Lys728AsnfsTer9
NM_005633.4:c.2184del MANE Select	NP_005624.2:p.Lys728AsnfsTer9