Canonical Allele Identifier: CA2404604020

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37978426_37978429delinsTAGG , CM000684.2:g.37978426_37978429delinsTAGG	GRCh38
NC_000022.10:g.38374433_38374436delinsTAGG , CM000684.1:g.38374433_38374436delinsTAGG	GRCh37
NC_000022.9:g.36704379_36704382delinsTAGG	NCBI36
NG_007948.1:g.11104_11107delinsCCTA , LRG_271:g.11104_11107delinsCCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.645-294_645-291delinsCCTA (SOX10)	ENSP00000513596.1:n.645-294_645-291delinsCCTA
ENST00000690831.1:c.*50+170_*50+173delinsCCTA (SOX10)	ENSP00000510381.1:n.*50+170_*50+173delinsCCTA
ENST00000396884.8:c.429-294_429-291delinsCCTA (SOX10) MANE Select	ENSP00000380093.2:n.429-294_429-291delinsCCTA
ENST00000360880.6:c.429-294_429-291delinsCCTA (SOX10)	ENSP00000354130.2:n.429-294_429-291delinsCCTA
ENST00000396884.6:c.429-294_429-291delinsCCTA (SOX10)	ENSP00000380093.2:n.429-294_429-291delinsCCTA
ENST00000405557.5:c.293+11256_293+11259delinsTAGG (POLR2F)	ENSP00000384112.1:n.293+11256_293+11259delinsTAGG
ENST00000407936.5:c.294-7728_294-7725delinsTAGG (POLR2F)	ENSP00000385725.1:n.294-7728_294-7725delinsTAGG
ENST00000427770.1:c.429-294_429-291delinsCCTA (SOX10)	ENSP00000414853.1:n.429-294_429-291delinsCCTA
ENST00000443002.5:c.*38+6116_*38+6119delinsTAGG (POLR2F)	ENSP00000406826.1:n.*38+6116_*38+6119delinsTAGG
ENST00000446929.5:c.59-294_59-291delinsCCTA (SOX10)
ENST00000470555.1:n.71-294_71-291delinsCCTA (SOX10)
NM_001301130.1:c.294-7728_294-7725delinsTAGG (POLR2F)	NP_001288059.1:n.294-7728_294-7725delinsTAGG
NM_001301131.1:c.293+11256_293+11259delinsTAGG (POLR2F)	NP_001288060.1:n.293+11256_293+11259delinsTAGG
NM_006941.3:c.429-294_429-291delinsCCTA , LRG_271t1:c.429-294_429-291delinsCCTA (SOX10)	NP_008872.1:n.429-294_429-291delinsCCTA
XR_938243.1:n.158+6116_158+6119delinsTAGG
NM_001363825.1:c.*38+6116_*38+6119delinsTAGG (POLR2F)	NP_001350754.1:n.*38+6116_*38+6119delinsTAGG
NM_001301130.2:c.294-7728_294-7725delinsTAGG (POLR2F)	NP_001288059.1:n.294-7728_294-7725delinsTAGG
NM_001301131.2:c.293+11256_293+11259delinsTAGG (POLR2F)	NP_001288060.1:n.293+11256_293+11259delinsTAGG
NM_006941.4:c.429-294_429-291delinsCCTA (SOX10) MANE Select	NP_008872.1:n.429-294_429-291delinsCCTA