Canonical Allele Identifier: CA532237872

Gene: SOS1

Linked Data

• dbSNP Id: rs1282951018
• gnomAD v2: 2-39249691-GGCAACT-G
• gnomAD v4: 2-39022550-GGCAACT-G
• MyVariant Identifiers: chr2:g.39249692_39249697del (hg19) ; chr2:g.39022551_39022556del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022554_39022559del , CM000664.2:g.39022554_39022559del	GRCh38
NC_000002.11:g.39249695_39249700del , CM000664.1:g.39249695_39249700del	GRCh37
NC_000002.10:g.39103199_39103204del	NCBI36
NG_007530.1:g.102908_102913del , LRG_754:g.102908_102913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1752_1757del
ENST00000685279.1:c.625+14_625+19del	ENSP00000509424.1:n.625+14_625+19del
ENST00000688043.1:n.2079+14_2079+19del
ENST00000689668.1:n.1865+14_1865+19del
ENST00000690876.1:c.1747+14_1747+19del	ENSP00000508955.1:n.1747+14_1747+19del
ENST00000691229.1:c.1747+14_1747+19del	ENSP00000510437.1:n.1747+14_1747+19del
ENST00000692089.1:c.1747+14_1747+19del	ENSP00000508626.1:n.1747+14_1747+19del
ENST00000692620.1:c.625+14_625+19del	ENSP00000509311.1:n.625+14_625+19del
ENST00000402219.8:c.1858+14_1858+19del MANE Select	ENSP00000384675.2:n.1858+14_1858+19del
ENST00000395038.6:c.1858+14_1858+19del	ENSP00000378479.2:n.1858+14_1858+19del
ENST00000402219.6:c.1858+14_1858+19del	ENSP00000384675.2:n.1858+14_1858+19del
ENST00000426016.5:c.1858+14_1858+19del	ENSP00000387784.1:n.1858+14_1858+19del
NM_005633.3:c.1858+14_1858+19del , LRG_754t1:c.1858+14_1858+19del	NP_005624.2:n.1858+14_1858+19del
XM_005264515.3:c.1858+14_1858+19del	XP_005264572.1:n.1858+14_1858+19del
XM_011533060.1:c.1951+14_1951+19del	XP_011531362.1:n.1951+14_1951+19del
XM_011533061.1:c.1951+14_1951+19del	XP_011531363.1:n.1951+14_1951+19del
XM_011533062.1:c.1837+14_1837+19del	XP_011531364.1:n.1837+14_1837+19del
XM_011533063.1:c.1834+14_1834+19del	XP_011531365.1:n.1834+14_1834+19del
XM_011533064.1:c.1687+14_1687+19del	XP_011531366.1:n.1687+14_1687+19del
XM_011533065.1:c.1951+14_1951+19del	XP_011531367.1:n.1951+14_1951+19del
XM_011533066.1:c.793+14_793+19del	XP_011531368.1:n.793+14_793+19del
XM_005264515.4:c.1858+14_1858+19del	XP_005264572.1:n.1858+14_1858+19del
XM_011533062.2:c.1837+14_1837+19del	XP_011531364.1:n.1837+14_1837+19del
XM_011533064.2:c.1687+14_1687+19del	XP_011531366.1:n.1687+14_1687+19del
NM_001382394.1:c.1837+14_1837+19del	NP_001369323.1:n.1837+14_1837+19del
NM_001382395.1:c.1858+14_1858+19del	NP_001369324.1:n.1858+14_1858+19del
NM_005633.4:c.1858+14_1858+19del MANE Select	NP_005624.2:n.1858+14_1858+19del