Canonical Allele Identifier: CA2988099794

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973704_37973705del , CM000684.2:g.37973704_37973705del	GRCh38
NC_000022.10:g.38369711_38369712del , CM000684.1:g.38369711_38369712del	GRCh37
NC_000022.9:g.36699657_36699658del	NCBI36
NG_007948.1:g.15831_15832del , LRG_271:g.15831_15832del

Transcript Alleles

HGVS	Amino-acid Change
NM_006941.4:c.1194_1195del (SOX10) MANE Select	NP_008872.1:p.Gln399ValfsTer2
ENST00000396884.8:c.1194_1195del (SOX10) MANE Select	ENSP00000380093.2:p.Gln399ValfsTer2
NM_001301130.1:c.293+6534_293+6535del (POLR2F)	NP_001288059.1:n.293+6534_293+6535del
NM_001301130.2:c.293+6534_293+6535del (POLR2F)	NP_001288059.1:n.293+6534_293+6535del
NM_001301131.1:c.293+6534_293+6535del (POLR2F)	NP_001288060.1:n.293+6534_293+6535del
NM_001301131.2:c.293+6534_293+6535del (POLR2F)	NP_001288060.1:n.293+6534_293+6535del
NM_001363825.1:c.*38+1394_*38+1395del (POLR2F)	NP_001350754.1:n.*38+1394_*38+1395del
NM_006941.3:c.1194_1195del , LRG_271t1:c.1194_1195del (SOX10)	NP_008872.1:p.Gln399ValfsTer2
ENST00000360880.6:c.1194_1195del (SOX10)	ENSP00000354130.2:p.Gln399ValfsTer2
ENST00000396884.6:c.1194_1195del (SOX10)	ENSP00000380093.2:p.Gln399ValfsTer2
ENST00000405557.5:c.293+6534_293+6535del (POLR2F)	ENSP00000384112.1:n.293+6534_293+6535del
ENST00000407936.5:c.293+6534_293+6535del (POLR2F)	ENSP00000385725.1:n.293+6534_293+6535del
ENST00000443002.5:c.*38+1394_*38+1395del (POLR2F)	ENSP00000406826.1:n.*38+1394_*38+1395del
ENST00000446929.5:c.482+342_482+343del (SOX10)
ENST00000651746.1:c.166-2698_166-2697del (SOX10)
ENST00000690831.1:c.*816_*817del (SOX10)	ENSP00000510381.1:n.*816_*817del
ENST00000698177.1:c.1410_1411del (SOX10)	ENSP00000513596.1:p.Gln471ValfsTer2
XR_938243.1:n.158+1394_158+1395del