Canonical Allele Identifier: CA2695230851

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983620del , CM000684.2:g.37983620del	GRCh38
NC_000022.10:g.38379627del , CM000684.1:g.38379627del	GRCh37
NC_000022.9:g.36709573del	NCBI36
NG_007948.1:g.5913del , LRG_271:g.5913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.381del (SOX10)	ENSP00000513596.1:p.Lys128ArgfsTer?
ENST00000690831.1:c.165del (SOX10)	ENSP00000510381.1:p.Lys56ArgfsTer?
ENST00000396884.8:c.165del (SOX10) MANE Select	ENSP00000380093.2:p.Lys56ArgfsTer?
ENST00000652356.1:n.454del (SOX10)
ENST00000360880.6:c.165del (SOX10)	ENSP00000354130.2:p.Lys56ArgfsTer?
ENST00000396884.6:c.165del (SOX10)	ENSP00000380093.2:p.Lys56ArgfsTer?
ENST00000405557.5:c.293+16450del (POLR2F)	ENSP00000384112.1:n.293+16450del
ENST00000407936.5:c.294-2534del (POLR2F)	ENSP00000385725.1:n.294-2534del
ENST00000427770.1:c.165del (SOX10)	ENSP00000414853.1:p.Lys56ArgfsTer?
ENST00000443002.5:c.*39-1432del (POLR2F)	ENSP00000406826.1:n.*39-1432del
ENST00000470555.1:n.70+719del (SOX10)
NM_001301130.1:c.294-2534del (POLR2F)	NP_001288059.1:n.294-2534del
NM_001301131.1:c.293+16450del (POLR2F)	NP_001288060.1:n.293+16450del
NM_006941.3:c.165del , LRG_271t1:c.165del (SOX10)	NP_008872.1:p.Lys56ArgfsTer?
XR_938243.1:n.158+11310del
NM_001363825.1:c.*38+11310del (POLR2F)	NP_001350754.1:n.*38+11310del
NM_001301130.2:c.294-2534del (POLR2F)	NP_001288059.1:n.294-2534del
NM_001301131.2:c.293+16450del (POLR2F)	NP_001288060.1:n.293+16450del
NM_006941.4:c.165del (SOX10) MANE Select	NP_008872.1:p.Lys56ArgfsTer?