Canonical Allele Identifier: CA2740094834

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 3024094
• ClinVar RCV Id: RCV003881683

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983408_37983409insC , CM000684.2:g.37983408_37983409insC	GRCh38
NC_000022.10:g.38379415_38379416insC , CM000684.1:g.38379415_38379416insC	GRCh37
NC_000022.9:g.36709361_36709362insC	NCBI36
NG_007948.1:g.6124_6125insG , LRG_271:g.6124_6125insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.592_593insG (SOX10)	ENSP00000513596.1:p.Tyr198Ter
ENST00000690831.1:c.376_377insG (SOX10)	ENSP00000510381.1:p.Tyr126Ter
ENST00000396884.8:c.376_377insG (SOX10) MANE Select	ENSP00000380093.2:p.Tyr126Ter
ENST00000652356.1:n.665_666insG (SOX10)
ENST00000360880.6:c.376_377insG (SOX10)	ENSP00000354130.2:p.Tyr126Ter
ENST00000396884.6:c.376_377insG (SOX10)	ENSP00000380093.2:p.Tyr126Ter
ENST00000405557.5:c.293+16238_293+16239insC (POLR2F)	ENSP00000384112.1:n.293+16238_293+16239insC
ENST00000407936.5:c.294-2746_294-2745insC (POLR2F)	ENSP00000385725.1:n.294-2746_294-2745insC
ENST00000427770.1:c.376_377insG (SOX10)	ENSP00000414853.1:p.Tyr126Ter
ENST00000443002.5:c.*39-1644_*39-1643insC (POLR2F)	ENSP00000406826.1:n.*39-1644_*39-1643insC
ENST00000446929.5:c.6_7insG (SOX10)
ENST00000470555.1:n.70+930_70+931insG (SOX10)
NM_001301130.1:c.294-2746_294-2745insC (POLR2F)	NP_001288059.1:n.294-2746_294-2745insC
NM_001301131.1:c.293+16238_293+16239insC (POLR2F)	NP_001288060.1:n.293+16238_293+16239insC
NM_006941.3:c.376_377insG , LRG_271t1:c.376_377insG (SOX10)	NP_008872.1:p.Tyr126Ter
XR_938243.1:n.158+11098_158+11099insC
NM_001363825.1:c.*38+11098_*38+11099insC (POLR2F)	NP_001350754.1:n.*38+11098_*38+11099insC
NM_001301130.2:c.294-2746_294-2745insC (POLR2F)	NP_001288059.1:n.294-2746_294-2745insC
NM_001301131.2:c.293+16238_293+16239insC (POLR2F)	NP_001288060.1:n.293+16238_293+16239insC
NM_006941.4:c.376_377insG (SOX10) MANE Select	NP_008872.1:p.Tyr126Ter