Canonical Allele Identifier: CA1025592696

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs1932292485
• gnomAD v3: 22-37978426-TAGG-T
• gnomAD v4: 22-37978426-TAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37978429_37978431del , CM000684.2:g.37978429_37978431del	GRCh38
NC_000022.10:g.38374436_38374438del , CM000684.1:g.38374436_38374438del	GRCh37
NC_000022.9:g.36704382_36704384del	NCBI36
NG_007948.1:g.11104_11106del , LRG_271:g.11104_11106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.645-294_645-292del (SOX10)	ENSP00000513596.1:n.645-294_645-292del
ENST00000690831.1:c.*50+170_*50+172del (SOX10)	ENSP00000510381.1:n.*50+170_*50+172del
ENST00000396884.8:c.429-294_429-292del (SOX10) MANE Select	ENSP00000380093.2:n.429-294_429-292del
ENST00000360880.6:c.429-294_429-292del (SOX10)	ENSP00000354130.2:n.429-294_429-292del
ENST00000396884.6:c.429-294_429-292del (SOX10)	ENSP00000380093.2:n.429-294_429-292del
ENST00000405557.5:c.293+11259_293+11261del (POLR2F)	ENSP00000384112.1:n.293+11259_293+11261del
ENST00000407936.5:c.294-7725_294-7723del (POLR2F)	ENSP00000385725.1:n.294-7725_294-7723del
ENST00000427770.1:c.429-294_429-292del (SOX10)	ENSP00000414853.1:n.429-294_429-292del
ENST00000443002.5:c.*38+6119_*38+6121del (POLR2F)	ENSP00000406826.1:n.*38+6119_*38+6121del
ENST00000446929.5:c.59-294_59-292del (SOX10)
ENST00000470555.1:n.71-294_71-292del (SOX10)
NM_001301130.1:c.294-7725_294-7723del (POLR2F)	NP_001288059.1:n.294-7725_294-7723del
NM_001301131.1:c.293+11259_293+11261del (POLR2F)	NP_001288060.1:n.293+11259_293+11261del
NM_006941.3:c.429-294_429-292del , LRG_271t1:c.429-294_429-292del (SOX10)	NP_008872.1:n.429-294_429-292del
XR_938243.1:n.158+6119_158+6121del
NM_001363825.1:c.*38+6119_*38+6121del (POLR2F)	NP_001350754.1:n.*38+6119_*38+6121del
NM_001301130.2:c.294-7725_294-7723del (POLR2F)	NP_001288059.1:n.294-7725_294-7723del
NM_001301131.2:c.293+11259_293+11261del (POLR2F)	NP_001288060.1:n.293+11259_293+11261del
NM_006941.4:c.429-294_429-292del (SOX10) MANE Select	NP_008872.1:n.429-294_429-292del