Canonical Allele Identifier: CA2695230833

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37978024_37978027dup , CM000684.2:g.37978024_37978027dup	GRCh38
NC_000022.10:g.38374031_38374034dup , CM000684.1:g.38374031_38374034dup	GRCh37
NC_000022.9:g.36703977_36703980dup	NCBI36
NG_007948.1:g.11507_11510dup , LRG_271:g.11507_11510dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.754_757dup (SOX10)	ENSP00000513596.1:p.Gly253GlufsTer?
ENST00000690831.1:c.*160_*163dup (SOX10)	ENSP00000510381.1:n.*160_*163dup
ENST00000396884.8:c.538_541dup (SOX10) MANE Select	ENSP00000380093.2:p.Gly181GlufsTer?
ENST00000651746.1:c.6_9dup (SOX10)
ENST00000360880.6:c.538_541dup (SOX10)	ENSP00000354130.2:p.Gly181GlufsTer?
ENST00000396884.6:c.538_541dup (SOX10)	ENSP00000380093.2:p.Gly181GlufsTer?
ENST00000405557.5:c.293+10854_293+10857dup (POLR2F)	ENSP00000384112.1:n.293+10854_293+10857dup
ENST00000407936.5:c.294-8130_294-8127dup (POLR2F)	ENSP00000385725.1:n.294-8130_294-8127dup
ENST00000427770.1:c.538_541dup (SOX10)	ENSP00000414853.1:p.Gly181GlufsTer?
ENST00000443002.5:c.*38+5714_*38+5717dup (POLR2F)	ENSP00000406826.1:n.*38+5714_*38+5717dup
ENST00000446929.5:c.168_171dup (SOX10)
NM_001301130.1:c.294-8130_294-8127dup (POLR2F)	NP_001288059.1:n.294-8130_294-8127dup
NM_001301131.1:c.293+10854_293+10857dup (POLR2F)	NP_001288060.1:n.293+10854_293+10857dup
NM_006941.3:c.538_541dup , LRG_271t1:c.538_541dup (SOX10)	NP_008872.1:p.Gly181GlufsTer?
XR_938243.1:n.158+5714_158+5717dup
NM_001363825.1:c.*38+5714_*38+5717dup (POLR2F)	NP_001350754.1:n.*38+5714_*38+5717dup
NM_001301130.2:c.294-8130_294-8127dup (POLR2F)	NP_001288059.1:n.294-8130_294-8127dup
NM_001301131.2:c.293+10854_293+10857dup (POLR2F)	NP_001288060.1:n.293+10854_293+10857dup
NM_006941.4:c.538_541dup (SOX10) MANE Select	NP_008872.1:p.Gly181GlufsTer?