Canonical Allele Identifier: CA2695230825

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37977867del , CM000684.2:g.37977867del	GRCh38
NC_000022.10:g.38373874del , CM000684.1:g.38373874del	GRCh37
NC_000022.9:g.36703820del	NCBI36
NG_007948.1:g.11667del , LRG_271:g.11667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.913+1del (SOX10)
ENST00000690831.1:c.*319+1del (SOX10)
ENST00000396884.8:c.697+1del (SOX10)
ENST00000651746.1:c.165+1del (SOX10)
ENST00000360880.6:c.697+1del (SOX10)
ENST00000396884.6:c.697+1del (SOX10)
ENST00000405557.5:c.293+10697del (POLR2F)	ENSP00000384112.1:n.293+10697del
ENST00000407936.5:c.294-8287del (POLR2F)	ENSP00000385725.1:n.294-8287del
ENST00000443002.5:c.*38+5557del (POLR2F)	ENSP00000406826.1:n.*38+5557del
ENST00000446929.5:c.327+1del (SOX10)
NM_001301130.1:c.294-8287del (POLR2F)	NP_001288059.1:n.294-8287del
NM_001301131.1:c.293+10697del (POLR2F)	NP_001288060.1:n.293+10697del
NM_006941.3:c.697+1del , LRG_271t1:c.697+1del (SOX10)
XR_938243.1:n.158+5557del
NM_001363825.1:c.*38+5557del (POLR2F)	NP_001350754.1:n.*38+5557del
NM_001301130.2:c.294-8287del (POLR2F)	NP_001288059.1:n.294-8287del
NM_001301131.2:c.293+10697del (POLR2F)	NP_001288060.1:n.293+10697del
NM_006941.4:c.697+1del (SOX10)