Canonical Allele Identifier: CA2695200115

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 2630501
• ClinVar RCV Id: RCV004527890

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983554_37983557dup , CM000684.2:g.37983554_37983557dup	GRCh38
NC_000022.10:g.38379561_38379564dup , CM000684.1:g.38379561_38379564dup	GRCh37
NC_000022.9:g.36709507_36709510dup	NCBI36
NG_007948.1:g.5979_5982dup , LRG_271:g.5979_5982dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.447_450dup (SOX10)	ENSP00000513596.1:p.Val151ProfsTer?
ENST00000690831.1:c.231_234dup (SOX10)	ENSP00000510381.1:p.Val79ProfsTer?
ENST00000396884.8:c.231_234dup (SOX10) MANE Select	ENSP00000380093.2:p.Val79ProfsTer?
ENST00000652356.1:n.520_523dup (SOX10)
ENST00000360880.6:c.231_234dup (SOX10)	ENSP00000354130.2:p.Val79ProfsTer?
ENST00000396884.6:c.231_234dup (SOX10)	ENSP00000380093.2:p.Val79ProfsTer?
ENST00000405557.5:c.293+16384_293+16387dup (POLR2F)	ENSP00000384112.1:n.293+16384_293+16387dup
ENST00000407936.5:c.294-2600_294-2597dup (POLR2F)	ENSP00000385725.1:n.294-2600_294-2597dup
ENST00000427770.1:c.231_234dup (SOX10)	ENSP00000414853.1:p.Val79ProfsTer?
ENST00000443002.5:c.*39-1498_*39-1495dup (POLR2F)	ENSP00000406826.1:n.*39-1498_*39-1495dup
ENST00000470555.1:n.70+785_70+788dup (SOX10)
NM_001301130.1:c.294-2600_294-2597dup (POLR2F)	NP_001288059.1:n.294-2600_294-2597dup
NM_001301131.1:c.293+16384_293+16387dup (POLR2F)	NP_001288060.1:n.293+16384_293+16387dup
NM_006941.3:c.231_234dup , LRG_271t1:c.231_234dup (SOX10)	NP_008872.1:p.Val79ProfsTer?
XR_938243.1:n.158+11244_158+11247dup
NM_001363825.1:c.*38+11244_*38+11247dup (POLR2F)	NP_001350754.1:n.*38+11244_*38+11247dup
NM_001301130.2:c.294-2600_294-2597dup (POLR2F)	NP_001288059.1:n.294-2600_294-2597dup
NM_001301131.2:c.293+16384_293+16387dup (POLR2F)	NP_001288060.1:n.293+16384_293+16387dup
NM_006941.4:c.231_234dup (SOX10) MANE Select	NP_008872.1:p.Val79ProfsTer?