Canonical Allele Identifier: CA10613328

Gene: SOS1

Linked Data

• ClinVar Variation Id: 335996
• ClinVar RCV Id: RCV001636941 ; RCV002467763 ; RCV002467764
• dbSNP Id: rs35969619
• gnomAD v2: 2-39211628-A-AACTT
• gnomAD v3: 2-38984487-A-AACTT
• gnomAD v4: 2-38984487-A-AACTT
• MyVariant Identifiers: chr2:g.39211629_39211632dupACTT (hg19) ; chr2:g.39211628_39211629insACTT (hg19) ; chr2:g.38984488_38984491dupACTT (hg38) ; chr2:g.38984487_38984488insACTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38984489_38984492dup , CM000664.2:g.38984489_38984492dup	GRCh38
NC_000002.11:g.39211630_39211633dup , CM000664.1:g.39211630_39211633dup	GRCh37
NC_000002.10:g.39065134_39065137dup	NCBI36
NG_007530.1:g.140973_140976dup , LRG_754:g.140973_140976dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000685279.1:c.*1333_*1336dup	ENSP00000509424.1:n.*1333_*1336dup
ENST00000686849.1:n.2126_2129dup
ENST00000690876.1:c.*2641_*2644dup	ENSP00000508955.1:n.*2641_*2644dup
ENST00000692089.1:c.3399+2982_3399+2985dup	ENSP00000508626.1:n.3399+2982_3399+2985du...
ENST00000402219.8:c.*1333_*1336dup MANE Select	ENSP00000384675.2:n.*1333_*1336dup
ENST00000402219.6:c.*1333_*1336dup	ENSP00000384675.2:n.*1333_*1336dup
ENST00000426016.5:c.*1333_*1336dup	ENSP00000387784.1:n.*1333_*1336dup
NM_005633.3:c.*1333_*1336dup , LRG_754t1:c.*1333_*1336dup	NP_005624.2:n.*1333_*1336dup
XM_005264515.3:c.*1333_*1336dup	XP_005264572.1:n.*1333_*1336dup
XM_011533060.1:c.*1333_*1336dup	XP_011531362.1:n.*1333_*1336dup
XM_011533061.1:c.*1333_*1336dup	XP_011531363.1:n.*1333_*1336dup
XM_011533062.1:c.*1333_*1336dup	XP_011531364.1:n.*1333_*1336dup
XM_011533063.1:c.*1333_*1336dup	XP_011531365.1:n.*1333_*1336dup
XM_011533064.1:c.*1333_*1336dup	XP_011531366.1:n.*1333_*1336dup
XM_011533065.1:c.*819_*822dup	XP_011531367.1:n.*819_*822dup
XM_011533066.1:c.*1333_*1336dup	XP_011531368.1:n.*1333_*1336dup
XM_005264515.4:c.*1333_*1336dup	XP_005264572.1:n.*1333_*1336dup
XM_011533062.2:c.*1333_*1336dup	XP_011531364.1:n.*1333_*1336dup
XM_011533064.2:c.*1333_*1336dup	XP_011531366.1:n.*1333_*1336dup
NM_001382394.1:c.*1333_*1336dup	NP_001369323.1:n.*1333_*1336dup
NM_001382395.1:c.*1333_*1336dup	NP_001369324.1:n.*1333_*1336dup
NM_005633.4:c.*1333_*1336dup MANE Select	NP_005624.2:n.*1333_*1336dup