Canonical Allele Identifier: CA752958196

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs1277000589
• MyVariant Identifiers: chr22:g.38369819_38369820insCGCGGT (hg19) ; chr22:g.37973812_37973813insCGCGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973814_37973819dup , CM000684.2:g.37973814_37973819dup	GRCh38
NC_000022.10:g.38369821_38369826dup , CM000684.1:g.38369821_38369826dup	GRCh37
NC_000022.9:g.36699767_36699772dup	NCBI36
NG_007948.1:g.15715_15720dup , LRG_271:g.15715_15720dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1294_1299dup (SOX10)	ENSP00000513596.1:p.Ala433_Gly434insThrAla
ENST00000690831.1:c.*700_*705dup (SOX10)	ENSP00000510381.1:n.*700_*705dup
ENST00000396884.8:c.1078_1083dup (SOX10) MANE Select	ENSP00000380093.2:p.Ala361_Gly362insThrAla
ENST00000651746.1:c.166-2814_166-2809dup (SOX10)
ENST00000360880.6:c.1078_1083dup (SOX10)	ENSP00000354130.2:p.Ala361_Gly362insThrAla
ENST00000396884.6:c.1078_1083dup (SOX10)	ENSP00000380093.2:p.Ala361_Gly362insThrAla
ENST00000405557.5:c.293+6644_293+6649dup (POLR2F)	ENSP00000384112.1:n.293+6644_293+6649dup
ENST00000407936.5:c.293+6644_293+6649dup (POLR2F)	ENSP00000385725.1:n.293+6644_293+6649dup
ENST00000443002.5:c.*38+1504_*38+1509dup (POLR2F)	ENSP00000406826.1:n.*38+1504_*38+1509dup
ENST00000446929.5:c.482+226_482+231dup (SOX10)
NM_001301130.1:c.293+6644_293+6649dup (POLR2F)	NP_001288059.1:n.293+6644_293+6649dup
NM_001301131.1:c.293+6644_293+6649dup (POLR2F)	NP_001288060.1:n.293+6644_293+6649dup
NM_006941.3:c.1078_1083dup , LRG_271t1:c.1078_1083dup (SOX10)	NP_008872.1:p.Ala361_Gly362insThrAla
XR_938243.1:n.158+1504_158+1509dup
NM_001363825.1:c.*38+1504_*38+1509dup (POLR2F)	NP_001350754.1:n.*38+1504_*38+1509dup
NM_001301130.2:c.293+6644_293+6649dup (POLR2F)	NP_001288059.1:n.293+6644_293+6649dup
NM_001301131.2:c.293+6644_293+6649dup (POLR2F)	NP_001288060.1:n.293+6644_293+6649dup
NM_006941.4:c.1078_1083dup (SOX10) MANE Select	NP_008872.1:p.Ala361_Gly362insThrAla