Canonical Allele Identifier: CA658824196

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 547776
• ClinVar RCV Id: RCV000660276
• dbSNP Id: rs1555939460

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983485_37983487delinsCC , CM000684.2:g.37983485_37983487delinsCC	GRCh38
NC_000022.10:g.38379492_38379494delinsCC , CM000684.1:g.38379492_38379494delinsCC	GRCh37
NC_000022.9:g.36709438_36709440delinsCC	NCBI36
NG_007948.1:g.6046_6048delinsGG , LRG_271:g.6046_6048delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.514_516delinsGG (SOX10)	ENSP00000513596.1:p.Ser172GlyfsTer9
ENST00000690831.1:c.298_300delinsGG (SOX10)	ENSP00000510381.1:p.Ser100GlyfsTer9
ENST00000396884.8:c.298_300delinsGG (SOX10) MANE Select	ENSP00000380093.2:p.Ser100GlyfsTer9
ENST00000652356.1:n.587_589delinsGG (SOX10)
ENST00000360880.6:c.298_300delinsGG (SOX10)	ENSP00000354130.2:p.Ser100GlyfsTer9
ENST00000396884.6:c.298_300delinsGG (SOX10)	ENSP00000380093.2:p.Ser100GlyfsTer9
ENST00000405557.5:c.293+16315_293+16317delinsCC (POLR2F)	ENSP00000384112.1:n.293+16315_293+16317delinsCC
ENST00000407936.5:c.294-2669_294-2667delinsCC (POLR2F)	ENSP00000385725.1:n.294-2669_294-2667delinsCC
ENST00000427770.1:c.298_300delinsGG (SOX10)	ENSP00000414853.1:p.Ser100GlyfsTer9
ENST00000443002.5:c.*39-1567_*39-1565delinsCC (POLR2F)	ENSP00000406826.1:n.*39-1567_*39-1565delinsCC
ENST00000470555.1:n.70+852_70+854delinsGG (SOX10)
NM_001301130.1:c.294-2669_294-2667delinsCC (POLR2F)	NP_001288059.1:n.294-2669_294-2667delinsCC
NM_001301131.1:c.293+16315_293+16317delinsCC (POLR2F)	NP_001288060.1:n.293+16315_293+16317delinsCC
NM_006941.3:c.298_300delinsGG , LRG_271t1:c.298_300delinsGG (SOX10)	NP_008872.1:p.Ser100GlyfsTer9
XR_938243.1:n.158+11175_158+11177delinsCC
NM_001363825.1:c.*38+11175_*38+11177delinsCC (POLR2F)	NP_001350754.1:n.*38+11175_*38+11177delinsCC
NM_001301130.2:c.294-2669_294-2667delinsCC (POLR2F)	NP_001288059.1:n.294-2669_294-2667delinsCC
NM_001301131.2:c.293+16315_293+16317delinsCC (POLR2F)	NP_001288060.1:n.293+16315_293+16317delinsCC
NM_006941.4:c.298_300delinsGG (SOX10) MANE Select	NP_008872.1:p.Ser100GlyfsTer9