Canonical Allele Identifier: CA2580615307
Gene: SOX10 HGNC NCBI
POLR2F HGNC NCBI

Linked Data

ClinVar Variation Id: 2444323
ClinVar RCV Id: RCV003153121

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37983432_37983433del , CM000684.2:g.37983432_37983433del GRCh38
NC_000022.10:g.38379439_38379440del , CM000684.1:g.38379439_38379440del GRCh37
NC_000022.9:g.36709385_36709386del NCBI36
NG_007948.1:g.6104_6105del , LRG_271:g.6104_6105del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698177.1:c.572_573del (SOX10) ENSP00000513596.1:p.Arg191GlnfsTer14
ENST00000690831.1:c.356_357del (SOX10) ENSP00000510381.1:p.Arg119GlnfsTer14
ENST00000396884.8:c.356_357del (SOX10) MANE Select ENSP00000380093.2:p.Arg119GlnfsTer14
ENST00000652356.1:n.645_646del (SOX10)
ENST00000360880.6:c.356_357del (SOX10) ENSP00000354130.2:p.Arg119GlnfsTer14
ENST00000396884.6:c.356_357del (SOX10) ENSP00000380093.2:p.Arg119GlnfsTer14
ENST00000405557.5:c.293+16262_293+16263del (POLR2F) ENSP00000384112.1:n.293+16262_293+16263del
ENST00000407936.5:c.294-2722_294-2721del (POLR2F) ENSP00000385725.1:n.294-2722_294-2721del
ENST00000427770.1:c.356_357del (SOX10) ENSP00000414853.1:p.Arg119GlnfsTer14
ENST00000443002.5:c.*39-1620_*39-1619del (POLR2F) ENSP00000406826.1:n.*39-1620_*39-1619del
ENST00000470555.1:n.70+910_70+911del (SOX10)
NM_001301130.1:c.294-2722_294-2721del (POLR2F) NP_001288059.1:n.294-2722_294-2721del
NM_001301131.1:c.293+16262_293+16263del (POLR2F) NP_001288060.1:n.293+16262_293+16263del
NM_006941.3:c.356_357del , LRG_271t1:c.356_357del (SOX10) NP_008872.1:p.Arg119GlnfsTer14
XR_938243.1:n.158+11122_158+11123del
NM_001363825.1:c.*38+11122_*38+11123del (POLR2F) NP_001350754.1:n.*38+11122_*38+11123del
NM_001301130.2:c.294-2722_294-2721del (POLR2F) NP_001288059.1:n.294-2722_294-2721del
NM_001301131.2:c.293+16262_293+16263del (POLR2F) NP_001288060.1:n.293+16262_293+16263del
NM_006941.4:c.356_357del (SOX10) MANE Select NP_008872.1:p.Arg119GlnfsTer14