Canonical Allele Identifier: CA2695230803

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973800_37973801insGCCCCATAGTGTGGGGG , CM000684.2:g.37973800_37973801insGCCCCATAGTGTGGGGG	GRCh38
NC_000022.10:g.38369807_38369808insGCCCCATAGTGTGGGGG , CM000684.1:g.38369807_38369808insGCCCCATAGTGTGGGGG	GRCh37
NC_000022.9:g.36699753_36699754insGCCCCATAGTGTGGGGG	NCBI36
NG_007948.1:g.15743_15744insTGGGGCCCCCCACACTA , LRG_271:g.15743_15744insTGGGGCCCCCCACACTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1322_1323insTGGGGCCCCCCACACTA (SOX10)	ENSP00000513596.1:p.Thr442GlyfsTer?
ENST00000690831.1:c.*728_*729insTGGGGCCCCCCACACTA (SOX10)	ENSP00000510381.1:n.*728_*729insTGGGGCCCCCCACACTA
ENST00000396884.8:c.1106_1107insTGGGGCCCCCCACACTA (SOX10) MANE Select	ENSP00000380093.2:p.Thr370GlyfsTer?
ENST00000651746.1:c.166-2786_166-2785insTGGGGCCCCCCACACTA (SOX10)
ENST00000360880.6:c.1106_1107insTGGGGCCCCCCACACTA (SOX10)	ENSP00000354130.2:p.Thr370GlyfsTer?
ENST00000396884.6:c.1106_1107insTGGGGCCCCCCACACTA (SOX10)	ENSP00000380093.2:p.Thr370GlyfsTer?
ENST00000405557.5:c.293+6630_293+6631insGCCCCATAGTGTGGGGG (POLR2F)	ENSP00000384112.1:n.293+6630_293+6631insGCCCCATAGTGTGGGGG
ENST00000407936.5:c.293+6630_293+6631insGCCCCATAGTGTGGGGG (POLR2F)	ENSP00000385725.1:n.293+6630_293+6631insGCCCCATAGTGTGGGGG
ENST00000443002.5:c.*38+1490_*38+1491insGCCCCATAGTGTGGGGG (POLR2F)	ENSP00000406826.1:n.*38+1490_*38+1491insGCCCCATAGTGTGGGGG
ENST00000446929.5:c.482+254_482+255insTGGGGCCCCCCACACTA (SOX10)
NM_001301130.1:c.293+6630_293+6631insGCCCCATAGTGTGGGGG (POLR2F)	NP_001288059.1:n.293+6630_293+6631insGCCCCATAGTGTGGGGG
NM_001301131.1:c.293+6630_293+6631insGCCCCATAGTGTGGGGG (POLR2F)	NP_001288060.1:n.293+6630_293+6631insGCCCCATAGTGTGGGGG
NM_006941.3:c.1106_1107insTGGGGCCCCCCACACTA , LRG_271t1:c.1106_1107insTGGGGCCCCCCACACTA (SOX10)	NP_008872.1:p.Thr370GlyfsTer?
XR_938243.1:n.158+1490_158+1491insGCCCCATAGTGTGGGGG
NM_001363825.1:c.*38+1490_*38+1491insGCCCCATAGTGTGGGGG (POLR2F)	NP_001350754.1:n.*38+1490_*38+1491insGCCCCATAGTGTGGGGG
NM_001301130.2:c.293+6630_293+6631insGCCCCATAGTGTGGGGG (POLR2F)	NP_001288059.1:n.293+6630_293+6631insGCCCCATAGTGTGGGGG
NM_001301131.2:c.293+6630_293+6631insGCCCCATAGTGTGGGGG (POLR2F)	NP_001288060.1:n.293+6630_293+6631insGCCCCATAGTGTGGGGG
NM_006941.4:c.1106_1107insTGGGGCCCCCCACACTA (SOX10) MANE Select	NP_008872.1:p.Thr370GlyfsTer?