Canonical Allele Identifier: CA2404602174

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973892_37973898delinsGAGATCC , CM000684.2:g.37973892_37973898delinsGAGATCC	GRCh38
NC_000022.10:g.38369899_38369905delinsGAGATCC , CM000684.1:g.38369899_38369905delinsGAGATCC	GRCh37
NC_000022.9:g.36699845_36699851delinsGAGATCC	NCBI36
NG_007948.1:g.15635_15641delinsGGATCTC , LRG_271:g.15635_15641delinsGGATCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1214_1220delinsGGATCTC (SOX10)	ENSP00000513596.1:p.Trp405=
ENST00000690831.1:c.*620_*626delinsGGATCTC (SOX10)	ENSP00000510381.1:n.*620_*626delinsGGATCTC
ENST00000396884.8:c.998_1004delinsGGATCTC (SOX10) MANE Select	ENSP00000380093.2:p.Trp333=
ENST00000651746.1:c.166-2894_166-2888delinsGGATCTC (SOX10)
ENST00000360880.6:c.998_1004delinsGGATCTC (SOX10)	ENSP00000354130.2:p.Trp333=
ENST00000396884.6:c.998_1004delinsGGATCTC (SOX10)	ENSP00000380093.2:p.Trp333=
ENST00000405557.5:c.293+6722_293+6728delinsGAGATCC (POLR2F)	ENSP00000384112.1:n.293+6722_293+6728delinsGAGATCC
ENST00000407936.5:c.293+6722_293+6728delinsGAGATCC (POLR2F)	ENSP00000385725.1:n.293+6722_293+6728delinsGAGATCC
ENST00000443002.5:c.*38+1582_*38+1588delinsGAGATCC (POLR2F)	ENSP00000406826.1:n.*38+1582_*38+1588delinsGAGATCC
ENST00000446929.5:c.482+146_482+152delinsGGATCTC (SOX10)
NM_001301130.1:c.293+6722_293+6728delinsGAGATCC (POLR2F)	NP_001288059.1:n.293+6722_293+6728delinsGAGATCC
NM_001301131.1:c.293+6722_293+6728delinsGAGATCC (POLR2F)	NP_001288060.1:n.293+6722_293+6728delinsGAGATCC
NM_006941.3:c.998_1004delinsGGATCTC , LRG_271t1:c.998_1004delinsGGATCTC (SOX10)	NP_008872.1:p.Trp333=
XR_938243.1:n.158+1582_158+1588delinsGAGATCC
NM_001363825.1:c.*38+1582_*38+1588delinsGAGATCC (POLR2F)	NP_001350754.1:n.*38+1582_*38+1588delinsGAGATCC
NM_001301130.2:c.293+6722_293+6728delinsGAGATCC (POLR2F)	NP_001288059.1:n.293+6722_293+6728delinsGAGATCC
NM_001301131.2:c.293+6722_293+6728delinsGAGATCC (POLR2F)	NP_001288060.1:n.293+6722_293+6728delinsGAGATCC
NM_006941.4:c.998_1004delinsGGATCTC (SOX10) MANE Select	NP_008872.1:p.Trp333=