Canonical Allele Identifier: CA2404601817

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973020_37973021delinsCG , CM000684.2:g.37973020_37973021delinsCG	GRCh38
NC_000022.10:g.38369027_38369028delinsCG , CM000684.1:g.38369027_38369028delinsCG	GRCh37
NC_000022.9:g.36698973_36698974delinsCG	NCBI36
NG_007948.1:g.16512_16513delinsCG , LRG_271:g.16512_16513delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.*474_*475delinsCG (SOX10)	ENSP00000513596.1:n.*474_*475delinsCG
ENST00000690831.1:c.*1497_*1498delinsCG (SOX10)	ENSP00000510381.1:n.*1497_*1498delinsCG
ENST00000396884.8:c.*474_*475delinsCG (SOX10) MANE Select	ENSP00000380093.2:n.*474_*475delinsCG
ENST00000651746.1:c.166-2017_166-2016delinsCG (SOX10)
ENST00000360880.6:c.*474_*475delinsCG (SOX10)	ENSP00000354130.2:n.*474_*475delinsCG
ENST00000396884.6:c.*474_*475delinsCG (SOX10)	ENSP00000380093.2:n.*474_*475delinsCG
ENST00000405557.5:c.293+5850_293+5851delinsCG (POLR2F)	ENSP00000384112.1:n.293+5850_293+5851delinsCG
ENST00000407936.5:c.293+5850_293+5851delinsCG (POLR2F)	ENSP00000385725.1:n.293+5850_293+5851delinsCG
ENST00000443002.5:c.*38+710_*38+711delinsCG (POLR2F)	ENSP00000406826.1:n.*38+710_*38+711delinsCG
ENST00000446929.5:c.482+1023_482+1024delinsCG (SOX10)
NM_001301130.1:c.293+5850_293+5851delinsCG (POLR2F)	NP_001288059.1:n.293+5850_293+5851delinsCG
NM_001301131.1:c.293+5850_293+5851delinsCG (POLR2F)	NP_001288060.1:n.293+5850_293+5851delinsCG
NM_006941.3:c.*474_*475delinsCG , LRG_271t1:c.*474_*475delinsCG (SOX10)	NP_008872.1:n.*474_*475delinsCG
XR_938243.1:n.158+710_158+711delinsCG
NM_001363825.1:c.*38+710_*38+711delinsCG (POLR2F)	NP_001350754.1:n.*38+710_*38+711delinsCG
NM_001301130.2:c.293+5850_293+5851delinsCG (POLR2F)	NP_001288059.1:n.293+5850_293+5851delinsCG
NM_001301131.2:c.293+5850_293+5851delinsCG (POLR2F)	NP_001288060.1:n.293+5850_293+5851delinsCG
NM_006941.4:c.*474_*475delinsCG (SOX10) MANE Select	NP_008872.1:n.*474_*475delinsCG