Canonical Allele Identifier: CA752957394

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs1159560732
• MyVariant Identifiers: chr22:g.38369265_38369266del (hg19) ; chr22:g.37973258_37973259del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973259_37973260del , CM000684.2:g.37973259_37973260del	GRCh38
NC_000022.10:g.38369266_38369267del , CM000684.1:g.38369266_38369267del	GRCh37
NC_000022.9:g.36699212_36699213del	NCBI36
NG_007948.1:g.16274_16275del , LRG_271:g.16274_16275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.*236_*237del (SOX10)	ENSP00000513596.1:n.*236_*237del
ENST00000690831.1:c.*1259_*1260del (SOX10)	ENSP00000510381.1:n.*1259_*1260del
ENST00000396884.8:c.*236_*237del (SOX10) MANE Select	ENSP00000380093.2:n.*236_*237del
ENST00000651746.1:c.166-2255_166-2254del (SOX10)
ENST00000360880.6:c.*236_*237del (SOX10)	ENSP00000354130.2:n.*236_*237del
ENST00000396884.6:c.*236_*237del (SOX10)	ENSP00000380093.2:n.*236_*237del
ENST00000405557.5:c.293+6089_293+6090del (POLR2F)	ENSP00000384112.1:n.293+6089_293+6090del
ENST00000407936.5:c.293+6089_293+6090del (POLR2F)	ENSP00000385725.1:n.293+6089_293+6090del
ENST00000443002.5:c.*38+949_*38+950del (POLR2F)	ENSP00000406826.1:n.*38+949_*38+950del
ENST00000446929.5:c.482+785_482+786del (SOX10)
NM_001301130.1:c.293+6089_293+6090del (POLR2F)	NP_001288059.1:n.293+6089_293+6090del
NM_001301131.1:c.293+6089_293+6090del (POLR2F)	NP_001288060.1:n.293+6089_293+6090del
NM_006941.3:c.*236_*237del , LRG_271t1:c.*236_*237del (SOX10)	NP_008872.1:n.*236_*237del
XR_938243.1:n.158+949_158+950del
NM_001363825.1:c.*38+949_*38+950del (POLR2F)	NP_001350754.1:n.*38+949_*38+950del
NM_001301130.2:c.293+6089_293+6090del (POLR2F)	NP_001288059.1:n.293+6089_293+6090del
NM_001301131.2:c.293+6089_293+6090del (POLR2F)	NP_001288060.1:n.293+6089_293+6090del
NM_006941.4:c.*236_*237del (SOX10) MANE Select	NP_008872.1:n.*236_*237del