Canonical Allele Identifier: CA658799547

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 488041
• ClinVar RCV Id: RCV000626400
• dbSNP Id: rs1555937398
• MyVariant Identifiers: chr22:g.38369812del (hg19) ; chr22:g.37973805del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973805del , CM000684.2:g.37973805del	GRCh38
NC_000022.10:g.38369812del , CM000684.1:g.38369812del	GRCh37
NC_000022.9:g.36699758del	NCBI36
NG_007948.1:g.15728del , LRG_271:g.15728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1307del (SOX10)	ENSP00000513596.1:p.Gln436ArgfsTer?
ENST00000690831.1:c.*713del (SOX10)	ENSP00000510381.1:n.*713del
ENST00000396884.8:c.1091del (SOX10) MANE Select	ENSP00000380093.2:p.Gln364ArgfsTer?
ENST00000651746.1:c.166-2801del (SOX10)
ENST00000360880.6:c.1091del (SOX10)	ENSP00000354130.2:p.Gln364ArgfsTer?
ENST00000396884.6:c.1091del (SOX10)	ENSP00000380093.2:p.Gln364ArgfsTer?
ENST00000405557.5:c.293+6635del (POLR2F)	ENSP00000384112.1:n.293+6635del
ENST00000407936.5:c.293+6635del (POLR2F)	ENSP00000385725.1:n.293+6635del
ENST00000443002.5:c.*38+1495del (POLR2F)	ENSP00000406826.1:n.*38+1495del
ENST00000446929.5:c.482+239del (SOX10)
NM_001301130.1:c.293+6635del (POLR2F)	NP_001288059.1:n.293+6635del
NM_001301131.1:c.293+6635del (POLR2F)	NP_001288060.1:n.293+6635del
NM_006941.3:c.1091del , LRG_271t1:c.1091del (SOX10)	NP_008872.1:p.Gln364ArgfsTer?
XR_938243.1:n.158+1495del
NM_001363825.1:c.*38+1495del (POLR2F)	NP_001350754.1:n.*38+1495del
NM_001301130.2:c.293+6635del (POLR2F)	NP_001288059.1:n.293+6635del
NM_001301131.2:c.293+6635del (POLR2F)	NP_001288060.1:n.293+6635del
NM_006941.4:c.1091del (SOX10) MANE Select	NP_008872.1:p.Gln364ArgfsTer?