Canonical Allele Identifier: CA2404602067

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973436_37973449delinsACAGGGCACACAGG , CM000684.2:g.37973436_37973449delinsACAGGGCACACAGG	GRCh38
NC_000022.10:g.38369443_38369456delinsACAGGGCACACAGG , CM000684.1:g.38369443_38369456delinsACAGGGCACACAGG	GRCh37
NC_000022.9:g.36699389_36699402delinsACAGGGCACACAGG	NCBI36
NG_007948.1:g.16084_16097delinsCCTGTGTGCCCTGT , LRG_271:g.16084_16097delinsCCTGTGTGCCCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.*46_*59delinsCCTGTGTGCCCTGT (SOX10)	ENSP00000513596.1:n.*46_*59delinsCCTGTGTGCCCTGT
ENST00000690831.1:c.*1069_*1082delinsCCTGTGTGCCCTGT (SOX10)	ENSP00000510381.1:n.*1069_*1082delinsCCTGTGTGCCCTGT
ENST00000396884.8:c.*46_*59delinsCCTGTGTGCCCTGT (SOX10) MANE Select	ENSP00000380093.2:n.*46_*59delinsCCTGTGTGCCCTGT
ENST00000651746.1:c.166-2445_166-2432delinsCCTGTGTGCCCTGT (SOX10)
ENST00000360880.6:c.*46_*59delinsCCTGTGTGCCCTGT (SOX10)	ENSP00000354130.2:n.*46_*59delinsCCTGTGTGCCCTGT
ENST00000396884.6:c.*46_*59delinsCCTGTGTGCCCTGT (SOX10)	ENSP00000380093.2:n.*46_*59delinsCCTGTGTGCCCTGT
ENST00000405557.5:c.293+6266_293+6279delinsACAGGGCACACAGG (POLR2F)	ENSP00000384112.1:n.293+6266_293+6279delinsACAGGGCACACAGG
ENST00000407936.5:c.293+6266_293+6279delinsACAGGGCACACAGG (POLR2F)	ENSP00000385725.1:n.293+6266_293+6279delinsACAGGGCACACAGG
ENST00000443002.5:c.*38+1126_*38+1139delinsACAGGGCACACAGG (POLR2F)	ENSP00000406826.1:n.*38+1126_*38+1139delinsACAGGGCACACAGG
ENST00000446929.5:c.482+595_482+608delinsCCTGTGTGCCCTGT (SOX10)
NM_001301130.1:c.293+6266_293+6279delinsACAGGGCACACAGG (POLR2F)	NP_001288059.1:n.293+6266_293+6279delinsACAGGGCACACAGG
NM_001301131.1:c.293+6266_293+6279delinsACAGGGCACACAGG (POLR2F)	NP_001288060.1:n.293+6266_293+6279delinsACAGGGCACACAGG
NM_006941.3:c.*46_*59delinsCCTGTGTGCCCTGT , LRG_271t1:c.*46_*59delinsCCTGTGTGCCCTGT (SOX10)	NP_008872.1:n.*46_*59delinsCCTGTGTGCCCTGT
XR_938243.1:n.158+1126_158+1139delinsACAGGGCACACAGG
NM_001363825.1:c.*38+1126_*38+1139delinsACAGGGCACACAGG (POLR2F)	NP_001350754.1:n.*38+1126_*38+1139delinsACAGGGCACACAGG
NM_001301130.2:c.293+6266_293+6279delinsACAGGGCACACAGG (POLR2F)	NP_001288059.1:n.293+6266_293+6279delinsACAGGGCACACAGG
NM_001301131.2:c.293+6266_293+6279delinsACAGGGCACACAGG (POLR2F)	NP_001288060.1:n.293+6266_293+6279delinsACAGGGCACACAGG
NM_006941.4:c.*46_*59delinsCCTGTGTGCCCTGT (SOX10) MANE Select	NP_008872.1:n.*46_*59delinsCCTGTGTGCCCTGT