Canonical Allele Identifier: CA658824193

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 547786
• ClinVar RCV Id: RCV000660286
• dbSNP Id: rs1555937395
• MyVariant Identifiers: chr22:g.38369808dup (hg19) ; chr22:g.37973801dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973804dup , CM000684.2:g.37973804dup	GRCh38
NC_000022.10:g.38369811dup , CM000684.1:g.38369811dup	GRCh37
NC_000022.9:g.36699757dup	NCBI36
NG_007948.1:g.15732dup , LRG_271:g.15732dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1311dup (SOX10)	ENSP00000513596.1:p.Pro438AlafsTer?
ENST00000690831.1:c.*717dup (SOX10)	ENSP00000510381.1:n.*717dup
ENST00000396884.8:c.1095dup (SOX10) MANE Select	ENSP00000380093.2:p.Pro366AlafsTer?
ENST00000651746.1:c.166-2797dup (SOX10)
ENST00000360880.6:c.1095dup (SOX10)	ENSP00000354130.2:p.Pro366AlafsTer?
ENST00000396884.6:c.1095dup (SOX10)	ENSP00000380093.2:p.Pro366AlafsTer?
ENST00000405557.5:c.293+6634dup (POLR2F)	ENSP00000384112.1:n.293+6634dup
ENST00000407936.5:c.293+6634dup (POLR2F)	ENSP00000385725.1:n.293+6634dup
ENST00000443002.5:c.*38+1494dup (POLR2F)	ENSP00000406826.1:n.*38+1494dup
ENST00000446929.5:c.482+243dup (SOX10)
NM_001301130.1:c.293+6634dup (POLR2F)	NP_001288059.1:n.293+6634dup
NM_001301131.1:c.293+6634dup (POLR2F)	NP_001288060.1:n.293+6634dup
NM_006941.3:c.1095dup , LRG_271t1:c.1095dup (SOX10)	NP_008872.1:p.Pro366AlafsTer?
XR_938243.1:n.158+1494dup
NM_001363825.1:c.*38+1494dup (POLR2F)	NP_001350754.1:n.*38+1494dup
NM_001301130.2:c.293+6634dup (POLR2F)	NP_001288059.1:n.293+6634dup
NM_001301131.2:c.293+6634dup (POLR2F)	NP_001288060.1:n.293+6634dup
NM_006941.4:c.1095dup (SOX10) MANE Select	NP_008872.1:p.Pro366AlafsTer?