Canonical Allele Identifier: CA2404606327

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs1932473247

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983637_37983638insTGGA , CM000684.2:g.37983637_37983638insTGGA	GRCh38
NC_000022.10:g.38379644_38379645insTGGA , CM000684.1:g.38379644_38379645insTGGA	GRCh37
NC_000022.9:g.36709590_36709591insTGGA	NCBI36
NG_007948.1:g.5895_5896insTCCA , LRG_271:g.5895_5896insTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.363_364insTCCA (SOX10)	ENSP00000513596.1:p.Glu122SerfsTer18
ENST00000690831.1:c.147_148insTCCA (SOX10)	ENSP00000510381.1:p.Glu50SerfsTer18
ENST00000396884.8:c.147_148insTCCA (SOX10) MANE Select	ENSP00000380093.2:p.Glu50SerfsTer18
ENST00000652356.1:n.436_437insTCCA (SOX10)
ENST00000360880.6:c.147_148insTCCA (SOX10)	ENSP00000354130.2:p.Glu50SerfsTer18
ENST00000396884.6:c.147_148insTCCA (SOX10)	ENSP00000380093.2:p.Glu50SerfsTer18
ENST00000405557.5:c.293+16467_293+16468insTGGA (POLR2F)	ENSP00000384112.1:n.293+16467_293+16468insTGGA
ENST00000407936.5:c.294-2517_294-2516insTGGA (POLR2F)	ENSP00000385725.1:n.294-2517_294-2516insTGGA
ENST00000427770.1:c.147_148insTCCA (SOX10)	ENSP00000414853.1:p.Glu50SerfsTer18
ENST00000443002.5:c.*39-1415_*39-1414insTGGA (POLR2F)	ENSP00000406826.1:n.*39-1415_*39-1414insTGGA
ENST00000470555.1:n.70+701_70+702insTCCA (SOX10)
NM_001301130.1:c.294-2517_294-2516insTGGA (POLR2F)	NP_001288059.1:n.294-2517_294-2516insTGGA
NM_001301131.1:c.293+16467_293+16468insTGGA (POLR2F)	NP_001288060.1:n.293+16467_293+16468insTGGA
NM_006941.3:c.147_148insTCCA , LRG_271t1:c.147_148insTCCA (SOX10)	NP_008872.1:p.Glu50SerfsTer18
XR_938243.1:n.158+11327_158+11328insTGGA
NM_001363825.1:c.*38+11327_*38+11328insTGGA (POLR2F)	NP_001350754.1:n.*38+11327_*38+11328insTGGA
NM_001301130.2:c.294-2517_294-2516insTGGA (POLR2F)	NP_001288059.1:n.294-2517_294-2516insTGGA
NM_001301131.2:c.293+16467_293+16468insTGGA (POLR2F)	NP_001288060.1:n.293+16467_293+16468insTGGA
NM_006941.4:c.147_148insTCCA (SOX10) MANE Select	NP_008872.1:p.Glu50SerfsTer18