Canonical Allele Identifier: CA45675186

Gene: SOS1

Linked Data

• dbSNP Id: rs374695121
• gnomAD v2: 2-39250423-TGTAA-T
• gnomAD v3: 2-39023282-TGTAA-T
• gnomAD v4: 2-39023282-TGTAA-T
• MyVariant Identifiers: chr2:g.39250424_39250427del (hg19) ; chr2:g.39023283_39023286del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023288_39023291del , CM000664.2:g.39023288_39023291del	GRCh38
NC_000002.11:g.39250429_39250432del , CM000664.1:g.39250429_39250432del	GRCh37
NC_000002.10:g.39103933_39103936del	NCBI36
NG_007530.1:g.102178_102181del , LRG_754:g.102178_102181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1083-61_1083-58del
ENST00000685279.1:c.-31-61_-31-58del	ENSP00000509424.1:n.-31-61_-31-58del
ENST00000688043.1:n.1424-61_1424-58del
ENST00000689668.1:n.1210-61_1210-58del
ENST00000690679.1:c.1390-61_1390-58del
ENST00000690876.1:c.1092-61_1092-58del	ENSP00000508955.1:n.1092-61_1092-58del
ENST00000691229.1:c.1092-61_1092-58del	ENSP00000510437.1:n.1092-61_1092-58del
ENST00000692089.1:c.1092-61_1092-58del	ENSP00000508626.1:n.1092-61_1092-58del
ENST00000692620.1:c.-31-61_-31-58del	ENSP00000509311.1:n.-31-61_-31-58del
ENST00000402219.8:c.1203-61_1203-58del MANE Select	ENSP00000384675.2:n.1203-61_1203-58del
ENST00000395038.6:c.1203-61_1203-58del	ENSP00000378479.2:n.1203-61_1203-58del
ENST00000402219.6:c.1203-61_1203-58del	ENSP00000384675.2:n.1203-61_1203-58del
ENST00000426016.5:c.1203-61_1203-58del	ENSP00000387784.1:n.1203-61_1203-58del
ENST00000472480.1:n.47-61_47-58del
NM_005633.3:c.1203-61_1203-58del , LRG_754t1:c.1203-61_1203-58del	NP_005624.2:n.1203-61_1203-58del
XM_005264515.3:c.1203-61_1203-58del	XP_005264572.1:n.1203-61_1203-58del
XM_011533060.1:c.1296-61_1296-58del	XP_011531362.1:n.1296-61_1296-58del
XM_011533061.1:c.1296-61_1296-58del	XP_011531363.1:n.1296-61_1296-58del
XM_011533062.1:c.1182-61_1182-58del	XP_011531364.1:n.1182-61_1182-58del
XM_011533063.1:c.1179-61_1179-58del	XP_011531365.1:n.1179-61_1179-58del
XM_011533064.1:c.1032-61_1032-58del	XP_011531366.1:n.1032-61_1032-58del
XM_011533065.1:c.1296-61_1296-58del	XP_011531367.1:n.1296-61_1296-58del
XM_011533066.1:c.138-61_138-58del	XP_011531368.1:n.138-61_138-58del
XM_005264515.4:c.1203-61_1203-58del	XP_005264572.1:n.1203-61_1203-58del
XM_011533062.2:c.1182-61_1182-58del	XP_011531364.1:n.1182-61_1182-58del
XM_011533064.2:c.1032-61_1032-58del	XP_011531366.1:n.1032-61_1032-58del
NM_001382394.1:c.1182-61_1182-58del	NP_001369323.1:n.1182-61_1182-58del
NM_001382395.1:c.1203-61_1203-58del	NP_001369324.1:n.1203-61_1203-58del
NM_005633.4:c.1203-61_1203-58del MANE Select	NP_005624.2:n.1203-61_1203-58del