Canonical Allele Identifier: CA2739267970

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 2835363
• ClinVar RCV Id: RCV003687092

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37977980_37978006dup , CM000684.2:g.37977980_37978006dup	GRCh38
NC_000022.10:g.38373987_38374013dup , CM000684.1:g.38373987_38374013dup	GRCh37
NC_000022.9:g.36703933_36703959dup	NCBI36
NG_007948.1:g.11531_11557dup , LRG_271:g.11531_11557dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000698177.1:c.778_804dup (SOX10)	ENSP00000513596.1:p.Glu268_Gln269insAlaGl...
ENST00000690831.1:c.*184_*210dup (SOX10)	ENSP00000510381.1:n.*184_*210dup
ENST00000396884.8:c.562_588dup (SOX10) MANE Select	ENSP00000380093.2:p.Glu196_Gln197insAlaGl...
ENST00000651746.1:c.30_56dup (SOX10)
ENST00000360880.6:c.562_588dup (SOX10)	ENSP00000354130.2:p.Glu196_Gln197insAlaGl...
ENST00000396884.6:c.562_588dup (SOX10)	ENSP00000380093.2:p.Glu196_Gln197insAlaGl...
ENST00000405557.5:c.293+10810_293+10836dup (POLR2F)	ENSP00000384112.1:n.293+10810_293+10836du...
ENST00000407936.5:c.294-8174_294-8148dup (POLR2F)	ENSP00000385725.1:n.294-8174_294-8148dup
ENST00000427770.1:c.562_588dup (SOX10)	ENSP00000414853.1:p.Glu196_Gln197insAlaGl...
ENST00000443002.5:c.*38+5670_*38+5696dup (POLR2F)	ENSP00000406826.1:n.*38+5670_*38+5696dup
ENST00000446929.5:c.192_218dup (SOX10)
NM_001301130.1:c.294-8174_294-8148dup (POLR2F)	NP_001288059.1:n.294-8174_294-8148dup
NM_001301131.1:c.293+10810_293+10836dup (POLR2F)	NP_001288060.1:n.293+10810_293+10836dup
NM_006941.3:c.562_588dup , LRG_271t1:c.562_588dup (SOX10)	NP_008872.1:p.Glu196_Gln197insAlaGluCysPr...
XR_938243.1:n.158+5670_158+5696dup
NM_001363825.1:c.*38+5670_*38+5696dup (POLR2F)	NP_001350754.1:n.*38+5670_*38+5696dup
NM_001301130.2:c.294-8174_294-8148dup (POLR2F)	NP_001288059.1:n.294-8174_294-8148dup
NM_001301131.2:c.293+10810_293+10836dup (POLR2F)	NP_001288060.1:n.293+10810_293+10836dup
NM_006941.4:c.562_588dup (SOX10) MANE Select	NP_008872.1:p.Glu196_Gln197insAlaGluCysPr...