Canonical Allele Identifier: CA118765
Gene: SOX10 HGNC NCBI
POLR2F HGNC NCBI

Linked Data

ClinVar Variation Id: 7400
ClinVar RCV Id: RCV000007824
dbSNP Id: rs397515368

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37973491_37973502del , CM000684.2:g.37973491_37973502del GRCh38
NC_000022.10:g.38369498_38369509del , CM000684.1:g.38369498_38369509del GRCh37
NC_000022.9:g.36699444_36699455del NCBI36
NG_007948.1:g.16037_16048del , LRG_271:g.16037_16048del

Transcript Alleles

HGVS Amino-acid change
ENST00000698177.1:c.1616_*10del (SOX10) ENSP00000513596.1:n.[c.1616_*10del;Ter539...
ENST00000690831.1:c.*1022_*1033del (SOX10) ENSP00000510381.1:n.*1022_*1033del
ENST00000396884.8:c.1400_*10del (SOX10) MANE Select ENSP00000380093.2:n.[c.1400_*10del;Ter467...
ENST00000651746.1:c.166-2492_166-2481del (SOX10)
ENST00000360880.6:c.1400_*10del (SOX10) ENSP00000354130.2:n.[c.1400_*10del;Ter467...
ENST00000396884.6:c.1400_*10del (SOX10) ENSP00000380093.2:n.[c.1400_*10del;Ter467...
ENST00000405557.5:c.293+6321_293+6332del (POLR2F) ENSP00000384112.1:n.293+6321_293+6332del
ENST00000407936.5:c.293+6321_293+6332del (POLR2F) ENSP00000385725.1:n.293+6321_293+6332del
ENST00000443002.5:c.*38+1181_*38+1192del (POLR2F) ENSP00000406826.1:n.*38+1181_*38+1192del
ENST00000446929.5:c.482+548_482+559del (SOX10)
NM_001301130.1:c.293+6321_293+6332del (POLR2F) NP_001288059.1:n.293+6321_293+6332del
NM_001301131.1:c.293+6321_293+6332del (POLR2F) NP_001288060.1:n.293+6321_293+6332del
NM_006941.3:c.1400_*10del , LRG_271t1:c.1400_*10del (SOX10) NP_008872.1:n.[c.1400_*10del;Ter467Cysext...
XR_938243.1:n.158+1181_158+1192del
NM_001363825.1:c.*38+1181_*38+1192del (POLR2F) NP_001350754.1:n.*38+1181_*38+1192del
NM_001301130.2:c.293+6321_293+6332del (POLR2F) NP_001288059.1:n.293+6321_293+6332del
NM_001301131.2:c.293+6321_293+6332del (POLR2F) NP_001288060.1:n.293+6321_293+6332del
NM_006941.4:c.1400_*10del (SOX10) MANE Select NP_008872.1:n.[c.1400_*10del;Ter467Cysext...