Canonical Allele Identifier: CA10653490

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37972410_37972411del , CM000684.2:g.37972410_37972411del	GRCh38
NC_000022.10:g.38368417_38368418del , CM000684.1:g.38368417_38368418del	GRCh37
NC_000022.9:g.36698363_36698364del	NCBI36
NG_007948.1:g.17124_17125del , LRG_271:g.17124_17125del

Transcript Alleles

HGVS	Amino-acid Change
NM_006941.4:c.*1086_*1087del (SOX10) MANE Select	NP_008872.1:n.*1086_*1087del
ENST00000396884.8:c.*1086_*1087del (SOX10) MANE Select	ENSP00000380093.2:n.*1086_*1087del
NM_001301130.1:c.293+5240_293+5241del (POLR2F)	NP_001288059.1:n.293+5240_293+5241del
NM_001301130.2:c.293+5240_293+5241del (POLR2F)	NP_001288059.1:n.293+5240_293+5241del
NM_001301131.1:c.293+5240_293+5241del (POLR2F)	NP_001288060.1:n.293+5240_293+5241del
NM_001301131.2:c.293+5240_293+5241del (POLR2F)	NP_001288060.1:n.293+5240_293+5241del
NM_001363825.1:c.*38+100_*38+101del (POLR2F)	NP_001350754.1:n.*38+100_*38+101del
NM_006941.3:c.*1086_*1087del , LRG_271t1:c.*1086_*1087del (SOX10)	NP_008872.1:n.*1086_*1087del
ENST00000360880.6:c.*1086_*1087del (SOX10)	ENSP00000354130.2:n.*1086_*1087del
ENST00000396884.6:c.*1086_*1087del (SOX10)	ENSP00000380093.2:n.*1086_*1087del
ENST00000405557.5:c.293+5240_293+5241del (POLR2F)	ENSP00000384112.1:n.293+5240_293+5241del
ENST00000407936.5:c.293+5240_293+5241del (POLR2F)	ENSP00000385725.1:n.293+5240_293+5241del
ENST00000443002.5:c.*38+100_*38+101del (POLR2F)	ENSP00000406826.1:n.*38+100_*38+101del
ENST00000446929.5:c.483-1111_483-1110del (SOX10)
ENST00000651746.1:c.166-1405_166-1404del (SOX10)
ENST00000690831.1:c.*2109_*2110del (SOX10)	ENSP00000510381.1:n.*2109_*2110del
ENST00000698177.1:c.*1086_*1087del (SOX10)	ENSP00000513596.1:n.*1086_*1087del
XR_938243.1:n.158+100_158+101del