Canonical Allele Identifier: CA2404606295

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs1932469686

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983576_37983577insTTGGACATAACCTATCCAGT , CM000684.2:g.37983576_37983577insTTGGACATAACCTATCCAGT	GRCh38
NC_000022.10:g.38379583_38379584insTTGGACATAACCTATCCAGT , CM000684.1:g.38379583_38379584insTTGGACATAACCTATCCAGT	GRCh37
NC_000022.9:g.36709529_36709530insTTGGACATAACCTATCCAGT	NCBI36
NG_007948.1:g.5956_5957insACTGGATAGGTTATGTCCAA , LRG_271:g.5956_5957insACTGGATAGGTTATGTCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.424_425insACTGGATAGGTTATGTCCAA (SOX10)	ENSP00000513596.1:p.Val142AspfsTer?
ENST00000690831.1:c.208_209insACTGGATAGGTTATGTCCAA (SOX10)	ENSP00000510381.1:p.Val70AspfsTer?
ENST00000396884.8:c.208_209insACTGGATAGGTTATGTCCAA (SOX10) MANE Select	ENSP00000380093.2:p.Val70AspfsTer?
ENST00000652356.1:n.497_498insACTGGATAGGTTATGTCCAA (SOX10)
ENST00000360880.6:c.208_209insACTGGATAGGTTATGTCCAA (SOX10)	ENSP00000354130.2:p.Val70AspfsTer?
ENST00000396884.6:c.208_209insACTGGATAGGTTATGTCCAA (SOX10)	ENSP00000380093.2:p.Val70AspfsTer?
ENST00000405557.5:c.293+16406_293+16407insTTGGACATAACCTATCCAGT (POLR2F)	ENSP00000384112.1:n.293+16406_293+16407insTTGGACATAACCTATCCAG...
ENST00000407936.5:c.294-2578_294-2577insTTGGACATAACCTATCCAGT (POLR2F)	ENSP00000385725.1:n.294-2578_294-2577insTTGGACATAACCTATCCAGT
ENST00000427770.1:c.208_209insACTGGATAGGTTATGTCCAA (SOX10)	ENSP00000414853.1:p.Val70AspfsTer?
ENST00000443002.5:c.*39-1476_*39-1475insTTGGACATAACCTATCCAGT (POLR2F)	ENSP00000406826.1:n.*39-1476_*39-1475insTTGGACATAACCTATCCAGT
ENST00000470555.1:n.70+762_70+763insACTGGATAGGTTATGTCCAA (SOX10)
NM_001301130.1:c.294-2578_294-2577insTTGGACATAACCTATCCAGT (POLR2F)	NP_001288059.1:n.294-2578_294-2577insTTGGACATAACCTATCCAGT
NM_001301131.1:c.293+16406_293+16407insTTGGACATAACCTATCCAGT (POLR2F)	NP_001288060.1:n.293+16406_293+16407insTTGGACATAACCTATCCAGT
NM_006941.3:c.208_209insACTGGATAGGTTATGTCCAA , LRG_271t1:c.208_209insACTGGATAGGTTATGTCCAA (SOX10)	NP_008872.1:p.Val70AspfsTer?
XR_938243.1:n.158+11266_158+11267insTTGGACATAACCTATCCAGT
NM_001363825.1:c.*38+11266_*38+11267insTTGGACATAACCTATCCAGT (POLR2F)	NP_001350754.1:n.*38+11266_*38+11267insTTGGACATAACCTATCCAGT
NM_001301130.2:c.294-2578_294-2577insTTGGACATAACCTATCCAGT (POLR2F)	NP_001288059.1:n.294-2578_294-2577insTTGGACATAACCTATCCAGT
NM_001301131.2:c.293+16406_293+16407insTTGGACATAACCTATCCAGT (POLR2F)	NP_001288060.1:n.293+16406_293+16407insTTGGACATAACCTATCCAGT
NM_006941.4:c.208_209insACTGGATAGGTTATGTCCAA (SOX10) MANE Select	NP_008872.1:p.Val70AspfsTer?