Canonical Allele Identifier: CA645616841

Gene: SOX10 POLR2F

Linked Data

• COSMIC: COSM141717

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973821_37973828del , CM000684.2:g.37973821_37973828del	GRCh38
NC_000022.10:g.38369828_38369835del , CM000684.1:g.38369828_38369835del	GRCh37
NC_000022.9:g.36699774_36699781del	NCBI36
NG_007948.1:g.15705_15712del , LRG_271:g.15705_15712del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1284_1291del (SOX10)	ENSP00000513596.1:p.Lys429AspfsTer?
ENST00000690831.1:c.*690_*697del (SOX10)	ENSP00000510381.1:n.*690_*697del
ENST00000396884.8:c.1068_1075del (SOX10) MANE Select	ENSP00000380093.2:p.Lys357AspfsTer?
ENST00000651746.1:c.166-2824_166-2817del (SOX10)
ENST00000360880.6:c.1068_1075del (SOX10)	ENSP00000354130.2:p.Lys357AspfsTer?
ENST00000396884.6:c.1068_1075del (SOX10)	ENSP00000380093.2:p.Lys357AspfsTer?
ENST00000405557.5:c.293+6651_293+6658del (POLR2F)	ENSP00000384112.1:n.293+6651_293+6658del
ENST00000407936.5:c.293+6651_293+6658del (POLR2F)	ENSP00000385725.1:n.293+6651_293+6658del
ENST00000443002.5:c.*38+1511_*38+1518del (POLR2F)	ENSP00000406826.1:n.*38+1511_*38+1518del
ENST00000446929.5:c.482+216_482+223del (SOX10)
NM_001301130.1:c.293+6651_293+6658del (POLR2F)	NP_001288059.1:n.293+6651_293+6658del
NM_001301131.1:c.293+6651_293+6658del (POLR2F)	NP_001288060.1:n.293+6651_293+6658del
NM_006941.3:c.1068_1075del , LRG_271t1:c.1068_1075del (SOX10)	NP_008872.1:p.Lys357AspfsTer?
XR_938243.1:n.158+1511_158+1518del
NM_001363825.1:c.*38+1511_*38+1518del (POLR2F)	NP_001350754.1:n.*38+1511_*38+1518del
NM_001301130.2:c.293+6651_293+6658del (POLR2F)	NP_001288059.1:n.293+6651_293+6658del
NM_001301131.2:c.293+6651_293+6658del (POLR2F)	NP_001288060.1:n.293+6651_293+6658del
NM_006941.4:c.1068_1075del (SOX10) MANE Select	NP_008872.1:p.Lys357AspfsTer?