Canonical Allele Identifier: CA2404601774

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973516_37973517delinsAT , CM000684.2:g.37973516_37973517delinsAT	GRCh38
NC_000022.10:g.38369523_38369524delinsAT , CM000684.1:g.38369523_38369524delinsAT	GRCh37
NC_000022.9:g.36699469_36699470delinsAT	NCBI36
NG_007948.1:g.16016_16017delinsAT , LRG_271:g.16016_16017delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1595_1596delinsAT (SOX10)	ENSP00000513596.1:p.Tyr532=
ENST00000690831.1:c.*1001_*1002delinsAT (SOX10)	ENSP00000510381.1:n.*1001_*1002delinsAT
ENST00000396884.8:c.1379_1380delinsAT (SOX10) MANE Select	ENSP00000380093.2:p.Tyr460=
ENST00000651746.1:c.166-2513_166-2512delinsAT (SOX10)
ENST00000360880.6:c.1379_1380delinsAT (SOX10)	ENSP00000354130.2:p.Tyr460=
ENST00000396884.6:c.1379_1380delinsAT (SOX10)	ENSP00000380093.2:p.Tyr460=
ENST00000405557.5:c.293+6346_293+6347delinsAT (POLR2F)	ENSP00000384112.1:n.293+6346_293+6347delinsAT
ENST00000407936.5:c.293+6346_293+6347delinsAT (POLR2F)	ENSP00000385725.1:n.293+6346_293+6347delinsAT
ENST00000443002.5:c.*38+1206_*38+1207delinsAT (POLR2F)	ENSP00000406826.1:n.*38+1206_*38+1207delinsAT
ENST00000446929.5:c.482+527_482+528delinsAT (SOX10)
NM_001301130.1:c.293+6346_293+6347delinsAT (POLR2F)	NP_001288059.1:n.293+6346_293+6347delinsAT
NM_001301131.1:c.293+6346_293+6347delinsAT (POLR2F)	NP_001288060.1:n.293+6346_293+6347delinsAT
NM_006941.3:c.1379_1380delinsAT , LRG_271t1:c.1379_1380delinsAT (SOX10)	NP_008872.1:p.Tyr460=
XR_938243.1:n.158+1206_158+1207delinsAT
NM_001363825.1:c.*38+1206_*38+1207delinsAT (POLR2F)	NP_001350754.1:n.*38+1206_*38+1207delinsAT
NM_001301130.2:c.293+6346_293+6347delinsAT (POLR2F)	NP_001288059.1:n.293+6346_293+6347delinsAT
NM_001301131.2:c.293+6346_293+6347delinsAT (POLR2F)	NP_001288060.1:n.293+6346_293+6347delinsAT
NM_006941.4:c.1379_1380delinsAT (SOX10) MANE Select	NP_008872.1:p.Tyr460=