Canonical Allele Identifier: CA1139667108

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 915453
• ClinVar RCV Id: RCV001170066
• dbSNP Id: rs1932131665

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973730_37973749dup , CM000684.2:g.37973730_37973749dup	GRCh38
NC_000022.10:g.38369737_38369756dup , CM000684.1:g.38369737_38369756dup	GRCh37
NC_000022.9:g.36699683_36699702dup	NCBI36
NG_007948.1:g.15792_15811dup , LRG_271:g.15792_15811dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1371_1390dup (SOX10)	ENSP00000513596.1:p.Phe464CysfsTer?
ENST00000690831.1:c.*777_*796dup (SOX10)	ENSP00000510381.1:n.*777_*796dup
ENST00000396884.8:c.1155_1174dup (SOX10) MANE Select	ENSP00000380093.2:p.Phe392CysfsTer?
ENST00000651746.1:c.166-2737_166-2718dup (SOX10)
ENST00000360880.6:c.1155_1174dup (SOX10)	ENSP00000354130.2:p.Phe392CysfsTer?
ENST00000396884.6:c.1155_1174dup (SOX10)	ENSP00000380093.2:p.Phe392CysfsTer?
ENST00000405557.5:c.293+6560_293+6579dup (POLR2F)	ENSP00000384112.1:n.293+6560_293+6579dup
ENST00000407936.5:c.293+6560_293+6579dup (POLR2F)	ENSP00000385725.1:n.293+6560_293+6579dup
ENST00000443002.5:c.*38+1420_*38+1439dup (POLR2F)	ENSP00000406826.1:n.*38+1420_*38+1439dup
ENST00000446929.5:c.482+303_482+322dup (SOX10)
NM_001301130.1:c.293+6560_293+6579dup (POLR2F)	NP_001288059.1:n.293+6560_293+6579dup
NM_001301131.1:c.293+6560_293+6579dup (POLR2F)	NP_001288060.1:n.293+6560_293+6579dup
NM_006941.3:c.1155_1174dup , LRG_271t1:c.1155_1174dup (SOX10)	NP_008872.1:p.Phe392CysfsTer?
XR_938243.1:n.158+1420_158+1439dup
NM_001363825.1:c.*38+1420_*38+1439dup (POLR2F)	NP_001350754.1:n.*38+1420_*38+1439dup
NM_001301130.2:c.293+6560_293+6579dup (POLR2F)	NP_001288059.1:n.293+6560_293+6579dup
NM_001301131.2:c.293+6560_293+6579dup (POLR2F)	NP_001288060.1:n.293+6560_293+6579dup
NM_006941.4:c.1155_1174dup (SOX10) MANE Select	NP_008872.1:p.Phe392CysfsTer?