Canonical Allele Identifier: CA2404602039

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973395_37973398delinsGCCT , CM000684.2:g.37973395_37973398delinsGCCT	GRCh38
NC_000022.10:g.38369402_38369405delinsGCCT , CM000684.1:g.38369402_38369405delinsGCCT	GRCh37
NC_000022.9:g.36699348_36699351delinsGCCT	NCBI36
NG_007948.1:g.16135_16138delinsAGGC , LRG_271:g.16135_16138delinsAGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000698177.1:c.*97_*100delinsAGGC (SOX10)	ENSP00000513596.1:n.*97_*100delinsAGGC
ENST00000690831.1:c.*1120_*1123delinsAGGC (SOX10)	ENSP00000510381.1:n.*1120_*1123delinsAGGC...
ENST00000396884.8:c.*97_*100delinsAGGC (SOX10) MANE Select	ENSP00000380093.2:n.*97_*100delinsAGGC
ENST00000651746.1:c.166-2394_166-2391delinsAGGC (SOX10)
ENST00000360880.6:c.*97_*100delinsAGGC (SOX10)	ENSP00000354130.2:n.*97_*100delinsAGGC
ENST00000396884.6:c.*97_*100delinsAGGC (SOX10)	ENSP00000380093.2:n.*97_*100delinsAGGC
ENST00000405557.5:c.293+6225_293+6228delinsGCCT (POLR2F)	ENSP00000384112.1:n.293+6225_293+6228deli...
ENST00000407936.5:c.293+6225_293+6228delinsGCCT (POLR2F)	ENSP00000385725.1:n.293+6225_293+6228deli...
ENST00000443002.5:c.*38+1085_*38+1088delinsGCCT (POLR2F)	ENSP00000406826.1:n.*38+1085_*38+1088deli...
ENST00000446929.5:c.482+646_482+649delinsAGGC (SOX10)
NM_001301130.1:c.293+6225_293+6228delinsGCCT (POLR2F)	NP_001288059.1:n.293+6225_293+6228delinsG...
NM_001301131.1:c.293+6225_293+6228delinsGCCT (POLR2F)	NP_001288060.1:n.293+6225_293+6228delinsG...
NM_006941.3:c.*97_*100delinsAGGC , LRG_271t1:c.*97_*100delinsAGGC (SOX10)	NP_008872.1:n.*97_*100delinsAGGC
XR_938243.1:n.158+1085_158+1088delinsGCCT
NM_001363825.1:c.*38+1085_*38+1088delinsGCCT (POLR2F)	NP_001350754.1:n.*38+1085_*38+1088delinsG...
NM_001301130.2:c.293+6225_293+6228delinsGCCT (POLR2F)	NP_001288059.1:n.293+6225_293+6228delinsG...
NM_001301131.2:c.293+6225_293+6228delinsGCCT (POLR2F)	NP_001288060.1:n.293+6225_293+6228delinsG...
NM_006941.4:c.*97_*100delinsAGGC (SOX10) MANE Select	NP_008872.1:n.*97_*100delinsAGGC