Canonical Allele Identifier: CA2404602144

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973817_37973819delinsGTC , CM000684.2:g.37973817_37973819delinsGTC	GRCh38
NC_000022.10:g.38369824_38369826delinsGTC , CM000684.1:g.38369824_38369826delinsGTC	GRCh37
NC_000022.9:g.36699770_36699772delinsGTC	NCBI36
NG_007948.1:g.15714_15716delinsGAC , LRG_271:g.15714_15716delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1293_1295delinsGAC (SOX10)	ENSP00000513596.1:p.Glu431=
ENST00000690831.1:c.*699_*701delinsGAC (SOX10)	ENSP00000510381.1:n.*699_*701delinsGAC
ENST00000396884.8:c.1077_1079delinsGAC (SOX10) MANE Select	ENSP00000380093.2:p.Glu359=
ENST00000651746.1:c.166-2815_166-2813delinsGAC (SOX10)
ENST00000360880.6:c.1077_1079delinsGAC (SOX10)	ENSP00000354130.2:p.Glu359=
ENST00000396884.6:c.1077_1079delinsGAC (SOX10)	ENSP00000380093.2:p.Glu359=
ENST00000405557.5:c.293+6647_293+6649delinsGTC (POLR2F)	ENSP00000384112.1:n.293+6647_293+6649delinsGTC
ENST00000407936.5:c.293+6647_293+6649delinsGTC (POLR2F)	ENSP00000385725.1:n.293+6647_293+6649delinsGTC
ENST00000443002.5:c.*38+1507_*38+1509delinsGTC (POLR2F)	ENSP00000406826.1:n.*38+1507_*38+1509delinsGTC
ENST00000446929.5:c.482+225_482+227delinsGAC (SOX10)
NM_001301130.1:c.293+6647_293+6649delinsGTC (POLR2F)	NP_001288059.1:n.293+6647_293+6649delinsGTC
NM_001301131.1:c.293+6647_293+6649delinsGTC (POLR2F)	NP_001288060.1:n.293+6647_293+6649delinsGTC
NM_006941.3:c.1077_1079delinsGAC , LRG_271t1:c.1077_1079delinsGAC (SOX10)	NP_008872.1:p.Glu359=
XR_938243.1:n.158+1507_158+1509delinsGTC
NM_001363825.1:c.*38+1507_*38+1509delinsGTC (POLR2F)	NP_001350754.1:n.*38+1507_*38+1509delinsGTC
NM_001301130.2:c.293+6647_293+6649delinsGTC (POLR2F)	NP_001288059.1:n.293+6647_293+6649delinsGTC
NM_001301131.2:c.293+6647_293+6649delinsGTC (POLR2F)	NP_001288060.1:n.293+6647_293+6649delinsGTC
NM_006941.4:c.1077_1079delinsGAC (SOX10) MANE Select	NP_008872.1:p.Glu359=