Canonical Allele Identifier: CA2404602133

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973804_37973805delinsCT , CM000684.2:g.37973804_37973805delinsCT	GRCh38
NC_000022.10:g.38369811_38369812delinsCT , CM000684.1:g.38369811_38369812delinsCT	GRCh37
NC_000022.9:g.36699757_36699758delinsCT	NCBI36
NG_007948.1:g.15728_15729delinsAG , LRG_271:g.15728_15729delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1307_1308delinsAG (SOX10)	ENSP00000513596.1:p.Gln436=
ENST00000690831.1:c.*713_*714delinsAG (SOX10)	ENSP00000510381.1:n.*713_*714delinsAG
ENST00000396884.8:c.1091_1092delinsAG (SOX10) MANE Select	ENSP00000380093.2:p.Gln364=
ENST00000651746.1:c.166-2801_166-2800delinsAG (SOX10)
ENST00000360880.6:c.1091_1092delinsAG (SOX10)	ENSP00000354130.2:p.Gln364=
ENST00000396884.6:c.1091_1092delinsAG (SOX10)	ENSP00000380093.2:p.Gln364=
ENST00000405557.5:c.293+6634_293+6635delinsCT (POLR2F)	ENSP00000384112.1:n.293+6634_293+6635delinsCT
ENST00000407936.5:c.293+6634_293+6635delinsCT (POLR2F)	ENSP00000385725.1:n.293+6634_293+6635delinsCT
ENST00000443002.5:c.*38+1494_*38+1495delinsCT (POLR2F)	ENSP00000406826.1:n.*38+1494_*38+1495delinsCT
ENST00000446929.5:c.482+239_482+240delinsAG (SOX10)
NM_001301130.1:c.293+6634_293+6635delinsCT (POLR2F)	NP_001288059.1:n.293+6634_293+6635delinsCT
NM_001301131.1:c.293+6634_293+6635delinsCT (POLR2F)	NP_001288060.1:n.293+6634_293+6635delinsCT
NM_006941.3:c.1091_1092delinsAG , LRG_271t1:c.1091_1092delinsAG (SOX10)	NP_008872.1:p.Gln364=
XR_938243.1:n.158+1494_158+1495delinsCT
NM_001363825.1:c.*38+1494_*38+1495delinsCT (POLR2F)	NP_001350754.1:n.*38+1494_*38+1495delinsCT
NM_001301130.2:c.293+6634_293+6635delinsCT (POLR2F)	NP_001288059.1:n.293+6634_293+6635delinsCT
NM_001301131.2:c.293+6634_293+6635delinsCT (POLR2F)	NP_001288060.1:n.293+6634_293+6635delinsCT
NM_006941.4:c.1091_1092delinsAG (SOX10) MANE Select	NP_008872.1:p.Gln364=