Canonical Allele Identifier: CA2404602114

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973788_37973789delinsTG , CM000684.2:g.37973788_37973789delinsTG	GRCh38
NC_000022.10:g.38369795_38369796delinsTG , CM000684.1:g.38369795_38369796delinsTG	GRCh37
NC_000022.9:g.36699741_36699742delinsTG	NCBI36
NG_007948.1:g.15744_15745delinsCA , LRG_271:g.15744_15745delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1323_1324delinsCA (SOX10)	ENSP00000513596.1:p.Tyr441=
ENST00000690831.1:c.*729_*730delinsCA (SOX10)	ENSP00000510381.1:n.*729_*730delinsCA
ENST00000396884.8:c.1107_1108delinsCA (SOX10) MANE Select	ENSP00000380093.2:p.Tyr369=
ENST00000651746.1:c.166-2785_166-2784delinsCA (SOX10)
ENST00000360880.6:c.1107_1108delinsCA (SOX10)	ENSP00000354130.2:p.Tyr369=
ENST00000396884.6:c.1107_1108delinsCA (SOX10)	ENSP00000380093.2:p.Tyr369=
ENST00000405557.5:c.293+6618_293+6619delinsTG (POLR2F)	ENSP00000384112.1:n.293+6618_293+6619delinsTG
ENST00000407936.5:c.293+6618_293+6619delinsTG (POLR2F)	ENSP00000385725.1:n.293+6618_293+6619delinsTG
ENST00000443002.5:c.*38+1478_*38+1479delinsTG (POLR2F)	ENSP00000406826.1:n.*38+1478_*38+1479delinsTG
ENST00000446929.5:c.482+255_482+256delinsCA (SOX10)
NM_001301130.1:c.293+6618_293+6619delinsTG (POLR2F)	NP_001288059.1:n.293+6618_293+6619delinsTG
NM_001301131.1:c.293+6618_293+6619delinsTG (POLR2F)	NP_001288060.1:n.293+6618_293+6619delinsTG
NM_006941.3:c.1107_1108delinsCA , LRG_271t1:c.1107_1108delinsCA (SOX10)	NP_008872.1:p.Tyr369=
XR_938243.1:n.158+1478_158+1479delinsTG
NM_001363825.1:c.*38+1478_*38+1479delinsTG (POLR2F)	NP_001350754.1:n.*38+1478_*38+1479delinsTG
NM_001301130.2:c.293+6618_293+6619delinsTG (POLR2F)	NP_001288059.1:n.293+6618_293+6619delinsTG
NM_001301131.2:c.293+6618_293+6619delinsTG (POLR2F)	NP_001288060.1:n.293+6618_293+6619delinsTG
NM_006941.4:c.1107_1108delinsCA (SOX10) MANE Select	NP_008872.1:p.Tyr369=